Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-01

AUTHORS

Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R. Greenberg, Inga Harting, Georg F. Hoffmann, Daniela Karall, David M. Koeller, Michael B. Krawinkel, Jürgen G. Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker, Additional individual contributors

ABSTRACT

Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals. More... »

PAGES

75-101

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-016-9999-9

DOI

http://dx.doi.org/10.1007/s10545-016-9999-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042000776

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27853989


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Metabolism, Inborn Errors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Brain Diseases, Metabolic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Dietary Supplements", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glutarates", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glutaryl-CoA Dehydrogenase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lysine", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boy", 
        "givenName": "Nikolas", 
        "id": "sg:person.0671610105.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671610105.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Hamburg-Eppendorf", 
          "id": "https://www.grid.ac/institutes/grid.13648.38", 
          "name": [
            "University Children\u2019s Hospital, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, D-20246, Hamburg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00fchlhausen", 
        "givenName": "Chris", 
        "id": "sg:person.01355003431.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355003431.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Dr. von Hauner Children\u2019s Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Maier", 
        "givenName": "Esther M.", 
        "id": "sg:person.01117642421.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117642421.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Heringer", 
        "givenName": "Jana", 
        "id": "sg:person.01003414021.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01003414021.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Assmann", 
        "givenName": "Birgit", 
        "id": "sg:person.01227115415.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227115415.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Burgard", 
        "givenName": "Peter", 
        "id": "sg:person.01006142615.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006142615.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dixon", 
        "givenName": "Marjorie", 
        "id": "sg:person.0647774010.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647774010.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Dr. von Hauner Children\u2019s Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fleissner", 
        "givenName": "Sandra", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manitoba", 
          "id": "https://www.grid.ac/institutes/grid.21613.37", 
          "name": [
            "Department of Pediatrics, Children\u2019s Hospital Health Sciences Centre and University of Manitoba, R3A 1R9, Winnipeg, MB, Canada", 
            "Department of Biochemistry and Medical Genetics, Children\u2019s Hospital Health Sciences Centre and University of Manitoba, R3A 1R9, Winnipeg, MB, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Greenberg", 
        "givenName": "Cheryl R.", 
        "id": "sg:person.01320771410.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320771410.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany", 
            "Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harting", 
        "givenName": "Inga", 
        "id": "sg:person.0772007452.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772007452.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hoffmann", 
        "givenName": "Georg F.", 
        "id": "sg:person.01060154657.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060154657.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical, University of Innsbruck, Innsbruck, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Karall", 
        "givenName": "Daniela", 
        "id": "sg:person.01356451051.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01356451051.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oregon Health & Science University", 
          "id": "https://www.grid.ac/institutes/grid.5288.7", 
          "name": [
            "Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koeller", 
        "givenName": "David M.", 
        "id": "sg:person.01345233025.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345233025.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Giessen", 
          "id": "https://www.grid.ac/institutes/grid.8664.c", 
          "name": [
            "Justus Liebig University Giessen, Institute of Nutritional Science, Giessen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krawinkel", 
        "givenName": "Michael B.", 
        "id": "sg:person.0723175050.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723175050.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okun", 
        "givenName": "J\u00fcrgen G.", 
        "id": "sg:person.01022514741.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022514741.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Opladen", 
        "givenName": "Thomas", 
        "id": "sg:person.01250310716.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250310716.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Posset", 
        "givenName": "Roland", 
        "id": "sg:person.0710741406.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710741406.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sahm", 
        "givenName": "Katja", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Innsbruck Medical University", 
          "id": "https://www.grid.ac/institutes/grid.5361.1", 
          "name": [
            "Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zschocke", 
        "givenName": "Johannes", 
        "id": "sg:person.01343344015.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343344015.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Heidelberg", 
          "id": "https://www.grid.ac/institutes/grid.5253.1", 
          "name": [
            "Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "K\u00f6lker", 
        "givenName": "Stefan", 
        "id": "sg:person.01225553577.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225553577.58"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Additional individual contributors", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/mds.870090105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000401731"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2005.12.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000415792"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.10442", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001724384"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045769.96657.af", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002169902", 
          "https://doi.org/10.1023/b:boli.0000045769.96657.af"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00247-003-0956-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002287290", 
          "https://doi.org/10.1007/s00247-003-0956-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(83)90155-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002632281"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(83)90155-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002632281"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/bmj.330.7492.644", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003153124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-016-9931-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003762312", 
          "https://doi.org/10.1007/s10545-016-9931-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-016-9931-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003762312", 
          "https://doi.org/10.1007/s10545-016-9931-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2012.05.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003805151"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045771.66300.2a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004150613", 
          "https://doi.org/10.1023/b:boli.0000045771.66300.2a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jclinepi.2010.04.026", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004434997"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00301092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004444811", 
          "https://doi.org/10.1007/bf00301092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm.3145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004485531", 
          "https://doi.org/10.1038/nm.3145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10048-015-0456-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004817881", 
          "https://doi.org/10.1007/s10048-015-0456-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-014-9727-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005790504", 
          "https://doi.org/10.1007/s10545-014-9727-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.braindev.2015.05.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006081239"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045776.50573.52", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006168024", 
          "https://doi.org/10.1023/b:boli.0000045776.50573.52"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(05)81843-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006428139"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1005683222187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006833641", 
          "https://doi.org/10.1023/a:1005683222187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejpn.2013.01.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007100267"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cccn.2005.03.048", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007774134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cccn.2005.03.048", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007774134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa025225", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008064361"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9887-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008155643", 
          "https://doi.org/10.1007/s10545-015-9887-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jchromb.2005.03.031", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008661352"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1196/annals.1444.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008686643"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awm058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009149092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-8-167", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009882343", 
          "https://doi.org/10.1186/1750-1172-8-167"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-016-2734-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010430761", 
          "https://doi.org/10.1007/s00431-016-2734-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000437291.75075.53", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010498623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000437291.75075.53", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010498623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000437291.75075.53", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010498623"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0002-8223(94)90245-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010566545"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-005-0457-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010681816", 
          "https://doi.org/10.1007/s10545-005-0457-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00234-005-1350-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010682107", 
          "https://doi.org/10.1007/s00234-005-1350-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00234-005-1350-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010682107", 
          "https://doi.org/10.1007/s00234-005-1350-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.braindev.2013.11.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010834898"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbadis.2013.04.019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010992314"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12024-015-9698-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012277462", 
          "https://doi.org/10.1007/s12024-015-9698-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12024-015-9698-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012277462", 
          "https://doi.org/10.1007/s12024-015-9698-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9826-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012460979", 
          "https://doi.org/10.1007/s10545-015-9826-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s002470050420", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014246442", 
          "https://doi.org/10.1007/s002470050420"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000181378.98593.3e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014291286", 
          "https://doi.org/10.1203/01.pdr.0000181378.98593.3e"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000181378.98593.3e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014291286", 
          "https://doi.org/10.1203/01.pdr.0000181378.98593.3e"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000181378.98593.3e", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014291286", 
          "https://doi.org/10.1203/01.pdr.0000181378.98593.3e"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000005635.89043.8a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014987179", 
          "https://doi.org/10.1023/b:boli.0000005635.89043.8a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejpn.2003.12.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015037259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2014_377", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015039568", 
          "https://doi.org/10.1007/8904_2014_377"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.braindev.2014.09.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015073933"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2004.09.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015676846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-009-1167-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015866307", 
          "https://doi.org/10.1007/s10545-009-1167-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-011-1086-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016409146", 
          "https://doi.org/10.1007/s00439-011-1086-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-011-1086-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016409146", 
          "https://doi.org/10.1007/s00439-011-1086-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2012.03.021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016461721"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1999.tb00626.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017302448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1999.tb00626.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017302448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-012-9483-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017933801", 
          "https://doi.org/10.1007/s10545-012-9483-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-009-9017-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018071824", 
          "https://doi.org/10.1007/s10545-009-9017-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31822313f6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018085732"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31822313f6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018085732"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-008-0912-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018364577", 
          "https://doi.org/10.1007/s10545-008-0912-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-010-9048-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018724069", 
          "https://doi.org/10.1007/s10545-010-9048-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-011-9405-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019080616", 
          "https://doi.org/10.1007/s10545-011-9405-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.82.1.67", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019454988"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.67.11.1387", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019602081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.22095", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021731054"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.22095", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021731054"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2010.07.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022149066"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci31617", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022612829"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2014_360", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022920018", 
          "https://doi.org/10.1007/8904_2014_360"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmhg.2014.01.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023064073"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01396200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023890519", 
          "https://doi.org/10.1007/bf01396200"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/01486071050290s1s70", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024829764"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.22313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025239814"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s002470050558", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025866982", 
          "https://doi.org/10.1007/s002470050558"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-011-9289-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026343495", 
          "https://doi.org/10.1007/s10545-011-9289-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-006-0332-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026489864", 
          "https://doi.org/10.1007/s10545-006-0332-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045770.93429.3c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026556431", 
          "https://doi.org/10.1023/b:boli.0000045770.93429.3c"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(88)80123-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026894639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2014_353", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027153198", 
          "https://doi.org/10.1007/8904_2014_353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.12659/msm.881834", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027297157"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2009.03581.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027302053"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2009.03581.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027302053"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004670050794", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027846365", 
          "https://doi.org/10.1007/s004670050794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1440-1754.2012.02513.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028182628"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.37.3.177", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028791717"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-006-0284-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028868495", 
          "https://doi.org/10.1007/s10545-006-0284-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1373/clinchem.2003.022178", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028972287"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-012-9517-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029151240", 
          "https://doi.org/10.1007/s10545-012-9517-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-014-9676-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029229991", 
          "https://doi.org/10.1007/s10545-014-9676-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1067/mpd.2000.108954", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029816651"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4103/0972-2327.93273", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029899693"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.12965", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030176287"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000219387.79887.86", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030369999", 
          "https://doi.org/10.1203/01.pdr.0000219387.79887.86"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/01.pdr.0000219387.79887.86", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030369999", 
          "https://doi.org/10.1203/01.pdr.0000219387.79887.86"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.pediatrneurol.2008.12.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031209097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2008.03.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031258193"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejpn.2006.11.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031450718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(95)70395-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031491806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(95)70395-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031491806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2005.08.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032418507"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-010-9223-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032502664", 
          "https://doi.org/10.1007/s10545-010-9223-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3174/ajnr.a2869", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033518785"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-013-9639-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033535518", 
          "https://doi.org/10.1007/s10545-013-9639-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1024087832406", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033782934", 
          "https://doi.org/10.1023/a:1024087832406"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1024485117095", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033789040", 
          "https://doi.org/10.1023/a:1024485117095"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ijep.2015.02.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034403024"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9839-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034689676", 
          "https://doi.org/10.1007/s10545-015-9839-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-006-0451-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035518805", 
          "https://doi.org/10.1007/s10545-006-0451-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11011-012-9349-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036194767", 
          "https://doi.org/10.1007/s11011-012-9349-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-007-0556-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036569339", 
          "https://doi.org/10.1007/s00431-007-0556-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/pdr.0b013e318137a124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037122728", 
          "https://doi.org/10.1203/pdr.0b013e318137a124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/pdr.0b013e318137a124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037122728", 
          "https://doi.org/10.1203/pdr.0b013e318137a124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1022040422590", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037274569", 
          "https://doi.org/10.1023/a:1022040422590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0006-2944(75)90091-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037791158"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/pde.12067", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037793722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/00006450-200009000-00009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037936094", 
          "https://doi.org/10.1203/00006450-200009000-00009"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045777.82784.74", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038900221", 
          "https://doi.org/10.1023/b:boli.0000045777.82784.74"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-015-9840-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038973483", 
          "https://doi.org/10.1007/s10545-015-9840-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.25722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039507587"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2008.03240.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040494108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073814541479", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041281746"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073814541479", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041281746"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.12117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041847805"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.20007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042081307"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(79)80048-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042613444"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awq269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043171427"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-277x.2012.01269.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043591975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejpn.2015.09.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043666597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jclinane.2012.06.023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043729170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s007010070058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044500101", 
          "https://doi.org/10.1007/s007010070058"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000077405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044811067"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/01.rli.0000080405.62988.f6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044846223"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2011.07.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045066457"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13023-015-0379-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045448231", 
          "https://doi.org/10.1186/s13023-015-0379-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2337/dc13-0724", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045879601"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pd.392", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046001693"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/mgme.2001.3270", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046207914"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1155/2014/256356", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046932028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/b:boli.0000045775.03183.48", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047175347", 
          "https://doi.org/10.1023/b:boli.0000045775.03183.48"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(08)61078-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047418555"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/14651858.cd006659.pub2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048052968"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.pubmed.a024777", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048686791"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2012.05.024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048688985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2008.01.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049047892"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2010.11.159", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049671196"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320410122", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049748072"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320410122", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049748072"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-011-9437-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050312204", 
          "https://doi.org/10.1007/s10545-011-9437-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2016_545", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050434741", 
          "https://doi.org/10.1007/8904_2016_545"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004728-200401000-00016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050518020"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004728-200401000-00016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050518020"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00247-015-3395-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051132282", 
          "https://doi.org/10.1007/s00247-015-3395-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1098-1004(1998)12:3<141::aid-humu1>3.0.co;2-k", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052376776"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awp112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052592386"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2005.11.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053440634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1017/s0012162299000870", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1054777610"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1021/bi049290c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1055199664"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1021/bi049290c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1055199664"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0032-1306384", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057258435"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2003-43261", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057425503"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2007-973761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057506028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/4.3.493", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645355"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.80.5.404", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062759070"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.80.5.404", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062759070"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073807302601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063854456"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073807302601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063854456"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073808322668", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063854752"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073808322668", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063854752"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000036616.11962.3c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064344788"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000036616.11962.3c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064344788"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000036616.11962.3c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064344788"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000167428.12417.b2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064347183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000167428.12417.b2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064347183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000167428.12417.b2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064347183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182a2cbf2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357925"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182a2cbf2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357925"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182a2cbf2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064357925"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.36.2.264", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064366424"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.107.1.174", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067820864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.107.5.1184", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067821041"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/2011.8.peds11153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071077036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/2011.8.peds11153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071077036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/2011.8.peds11153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071077036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/2011.8.peds11153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071077036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/2011.8.peds11153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071077036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/jns.1995.82.6.1078", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071097643"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/jns.1995.82.6.1078", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071097643"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3171/jns.1995.82.6.1078", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071097643"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075003300", 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-003-1182-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075268801", 
          "https://doi.org/10.1007/s00431-003-1182-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2005-2633i", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1077247564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077617727", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077921664", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078181451", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078981227", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079049425", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082434018", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/ajpendo.1993.265.4.e532", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082716862"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082890045", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083081145", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-01", 
    "datePublishedReg": "2017-01-01", 
    "description": "Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6\u00a0years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (K\u00f6lker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10545-016-9999-9", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1090550", 
        "issn": [
          "0141-8955", 
          "1573-2665"
        ], 
        "name": "Journal of Inherited Metabolic Disease", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "40"
      }
    ], 
    "name": "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision", 
    "pagination": "75-101", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "c812674e3754e9282af37f87100280db4027be5aa2b96d3afa54e214f167a9a8"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "27853989"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7910918"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10545-016-9999-9"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1042000776"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10545-016-9999-9", 
      "https://app.dimensions.ai/details/publication/pub.1042000776"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:44", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000363_0000000363/records_70068_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs10545-016-9999-9"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s10545-016-9999-9'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10545-016-9999-9'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10545-016-9999-9'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-016-9999-9'


 

This table displays all metadata directly associated to this object as RDF triples.

809 TRIPLES      21 PREDICATES      203 URIs      28 LITERALS      16 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10545-016-9999-9 schema:about N2d94b87d2ead4eea976d0d8d504e12a6
2 N31e9af1a6dfc463cbe5b2e212b4893f9
3 N5c20eb3a0c94400880fba2e3458b6da9
4 N7ac935fca28e4b6db50e07ac674cdf66
5 N99018dfac52446e3bc4828176ce6b1b8
6 Nb83de12d14664ff48d5180b9aab90317
7 Nc0a8fce61c014cd6adbb430cbf723b15
8 anzsrc-for:11
9 anzsrc-for:1103
10 schema:author N16d4eb92bce94cb4b7d35a9f711736bf
11 schema:citation sg:pub.10.1007/8904_2014_353
12 sg:pub.10.1007/8904_2014_360
13 sg:pub.10.1007/8904_2014_377
14 sg:pub.10.1007/8904_2016_545
15 sg:pub.10.1007/bf00301092
16 sg:pub.10.1007/bf01396200
17 sg:pub.10.1007/s00234-005-1350-3
18 sg:pub.10.1007/s00247-003-0956-z
19 sg:pub.10.1007/s00247-015-3395-8
20 sg:pub.10.1007/s002470050420
21 sg:pub.10.1007/s002470050558
22 sg:pub.10.1007/s00431-003-1182-2
23 sg:pub.10.1007/s00431-007-0556-2
24 sg:pub.10.1007/s00431-016-2734-6
25 sg:pub.10.1007/s00439-011-1086-6
26 sg:pub.10.1007/s004670050794
27 sg:pub.10.1007/s007010070058
28 sg:pub.10.1007/s10048-015-0456-y
29 sg:pub.10.1007/s10545-005-0457-3
30 sg:pub.10.1007/s10545-006-0284-1
31 sg:pub.10.1007/s10545-006-0332-x
32 sg:pub.10.1007/s10545-006-0451-4
33 sg:pub.10.1007/s10545-008-0912-z
34 sg:pub.10.1007/s10545-009-1167-z
35 sg:pub.10.1007/s10545-009-9017-6
36 sg:pub.10.1007/s10545-010-9048-z
37 sg:pub.10.1007/s10545-010-9223-2
38 sg:pub.10.1007/s10545-011-9289-5
39 sg:pub.10.1007/s10545-011-9405-6
40 sg:pub.10.1007/s10545-011-9437-y
41 sg:pub.10.1007/s10545-012-9483-0
42 sg:pub.10.1007/s10545-012-9517-7
43 sg:pub.10.1007/s10545-013-9639-6
44 sg:pub.10.1007/s10545-014-9676-9
45 sg:pub.10.1007/s10545-014-9727-2
46 sg:pub.10.1007/s10545-015-9826-8
47 sg:pub.10.1007/s10545-015-9839-3
48 sg:pub.10.1007/s10545-015-9840-x
49 sg:pub.10.1007/s10545-015-9887-8
50 sg:pub.10.1007/s10545-016-9931-3
51 sg:pub.10.1007/s11011-012-9349-z
52 sg:pub.10.1007/s12024-015-9698-0
53 sg:pub.10.1023/a:1005683222187
54 sg:pub.10.1023/a:1022040422590
55 sg:pub.10.1023/a:1024087832406
56 sg:pub.10.1023/a:1024485117095
57 sg:pub.10.1023/b:boli.0000005635.89043.8a
58 sg:pub.10.1023/b:boli.0000045769.96657.af
59 sg:pub.10.1023/b:boli.0000045770.93429.3c
60 sg:pub.10.1023/b:boli.0000045771.66300.2a
61 sg:pub.10.1023/b:boli.0000045775.03183.48
62 sg:pub.10.1023/b:boli.0000045776.50573.52
63 sg:pub.10.1023/b:boli.0000045777.82784.74
64 sg:pub.10.1038/nm.3145
65 sg:pub.10.1186/1750-1172-8-167
66 sg:pub.10.1186/s13023-015-0379-6
67 sg:pub.10.1203/00006450-200009000-00009
68 sg:pub.10.1203/01.pdr.0000181378.98593.3e
69 sg:pub.10.1203/01.pdr.0000219387.79887.86
70 sg:pub.10.1203/pdr.0b013e318137a124
71 https://app.dimensions.ai/details/publication/pub.1075003300
72 https://app.dimensions.ai/details/publication/pub.1077617727
73 https://app.dimensions.ai/details/publication/pub.1077921664
74 https://app.dimensions.ai/details/publication/pub.1078181451
75 https://app.dimensions.ai/details/publication/pub.1078981227
76 https://app.dimensions.ai/details/publication/pub.1079049425
77 https://app.dimensions.ai/details/publication/pub.1082434018
78 https://app.dimensions.ai/details/publication/pub.1082890045
79 https://app.dimensions.ai/details/publication/pub.1083081145
80 https://doi.org/10.1002/(sici)1098-1004(1998)12:3<141::aid-humu1>3.0.co;2-k
81 https://doi.org/10.1002/14651858.cd006659.pub2
82 https://doi.org/10.1002/ajmg.1320410122
83 https://doi.org/10.1002/ajmg.c.20007
84 https://doi.org/10.1002/ana.22095
85 https://doi.org/10.1002/mds.10442
86 https://doi.org/10.1002/mds.22313
87 https://doi.org/10.1002/mds.25722
88 https://doi.org/10.1002/mds.870090105
89 https://doi.org/10.1002/pd.392
90 https://doi.org/10.1006/mgme.2001.3270
91 https://doi.org/10.1016/0002-8223(94)90245-3
92 https://doi.org/10.1016/0006-2944(75)90091-5
93 https://doi.org/10.1016/0009-8981(83)90155-9
94 https://doi.org/10.1016/j.bbadis.2013.04.019
95 https://doi.org/10.1016/j.braindev.2013.11.006
96 https://doi.org/10.1016/j.braindev.2014.09.001
97 https://doi.org/10.1016/j.braindev.2015.05.013
98 https://doi.org/10.1016/j.cccn.2005.03.048
99 https://doi.org/10.1016/j.ejmhg.2014.01.001
100 https://doi.org/10.1016/j.ejpn.2003.12.007
101 https://doi.org/10.1016/j.ejpn.2006.11.006
102 https://doi.org/10.1016/j.ejpn.2013.01.003
103 https://doi.org/10.1016/j.ejpn.2015.09.007
104 https://doi.org/10.1016/j.ijep.2015.02.001
105 https://doi.org/10.1016/j.jchromb.2005.03.031
106 https://doi.org/10.1016/j.jclinane.2012.06.023
107 https://doi.org/10.1016/j.jclinepi.2010.04.026
108 https://doi.org/10.1016/j.pediatrneurol.2008.12.009
109 https://doi.org/10.1016/j.ymgme.2004.09.016
110 https://doi.org/10.1016/j.ymgme.2005.08.005
111 https://doi.org/10.1016/j.ymgme.2005.11.007
112 https://doi.org/10.1016/j.ymgme.2005.12.008
113 https://doi.org/10.1016/j.ymgme.2008.01.005
114 https://doi.org/10.1016/j.ymgme.2008.03.005
115 https://doi.org/10.1016/j.ymgme.2010.07.018
116 https://doi.org/10.1016/j.ymgme.2010.11.159
117 https://doi.org/10.1016/j.ymgme.2011.07.003
118 https://doi.org/10.1016/j.ymgme.2012.03.021
119 https://doi.org/10.1016/j.ymgme.2012.05.018
120 https://doi.org/10.1016/j.ymgme.2012.05.024
121 https://doi.org/10.1016/s0022-3476(05)81843-8
122 https://doi.org/10.1016/s0022-3476(79)80048-7
123 https://doi.org/10.1016/s0022-3476(88)80123-9
124 https://doi.org/10.1016/s0022-3476(95)70395-0
125 https://doi.org/10.1016/s0140-6736(08)61078-8
126 https://doi.org/10.1017/s0012162299000870
127 https://doi.org/10.1021/bi049290c
128 https://doi.org/10.1055/s-0032-1306384
129 https://doi.org/10.1055/s-2003-43261
130 https://doi.org/10.1055/s-2007-973761
131 https://doi.org/10.1056/nejmoa025225
132 https://doi.org/10.1067/mpd.2000.108954
133 https://doi.org/10.1093/brain/awm058
134 https://doi.org/10.1093/brain/awp112
135 https://doi.org/10.1093/brain/awq269
136 https://doi.org/10.1093/hmg/4.3.493
137 https://doi.org/10.1093/oxfordjournals.pubmed.a024777
138 https://doi.org/10.1097/00004728-200401000-00016
139 https://doi.org/10.1097/01.rli.0000080405.62988.f6
140 https://doi.org/10.1111/dmcn.12117
141 https://doi.org/10.1111/dmcn.12965
142 https://doi.org/10.1111/j.1365-277x.2012.01269.x
143 https://doi.org/10.1111/j.1440-1754.2012.02513.x
144 https://doi.org/10.1111/j.1469-8749.1999.tb00626.x
145 https://doi.org/10.1111/j.1469-8749.2008.03240.x
146 https://doi.org/10.1111/j.1469-8749.2009.03581.x
147 https://doi.org/10.1111/pde.12067
148 https://doi.org/10.1136/adc.67.11.1387
149 https://doi.org/10.1136/adc.80.5.404
150 https://doi.org/10.1136/adc.82.1.67
151 https://doi.org/10.1136/bmj.330.7492.644
152 https://doi.org/10.1136/jmg.37.3.177
153 https://doi.org/10.1152/ajpendo.1993.265.4.e532
154 https://doi.org/10.1155/2014/256356
155 https://doi.org/10.1159/000077405
156 https://doi.org/10.1172/jci31617
157 https://doi.org/10.1177/01486071050290s1s70
158 https://doi.org/10.1177/0883073807302601
159 https://doi.org/10.1177/0883073808322668
160 https://doi.org/10.1177/0883073814541479
161 https://doi.org/10.1196/annals.1444.017
162 https://doi.org/10.1212/01.wnl.0000036616.11962.3c
163 https://doi.org/10.1212/01.wnl.0000167428.12417.b2
164 https://doi.org/10.1212/01.wnl.0000437291.75075.53
165 https://doi.org/10.1212/wnl.0b013e31822313f6
166 https://doi.org/10.1212/wnl.0b013e3182a2cbf2
167 https://doi.org/10.1212/wnl.36.2.264
168 https://doi.org/10.12659/msm.881834
169 https://doi.org/10.1373/clinchem.2003.022178
170 https://doi.org/10.1542/peds.107.1.174
171 https://doi.org/10.1542/peds.107.5.1184
172 https://doi.org/10.1542/peds.2005-2633i
173 https://doi.org/10.2337/dc13-0724
174 https://doi.org/10.3171/2011.8.peds11153
175 https://doi.org/10.3171/jns.1995.82.6.1078
176 https://doi.org/10.3174/ajnr.a2869
177 https://doi.org/10.4103/0972-2327.93273
178 schema:datePublished 2017-01
179 schema:datePublishedReg 2017-01-01
180 schema:description Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.
181 schema:genre research_article
182 schema:inLanguage en
183 schema:isAccessibleForFree false
184 schema:isPartOf N2a6f1084803b4f8ca88cc15890d86bd7
185 N7f6f703609f54ef9b91661d224529afa
186 sg:journal.1090550
187 schema:name Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
188 schema:pagination 75-101
189 schema:productId N336283db7add4695899914c576bd2d04
190 N49f79b7fc66c4ad28babadc394f05c04
191 N5a17bd2bbfa242f9b5972be2b508b265
192 N84bd17c094bd4266b6600ecb33c048e3
193 Ne474032bb3e04aad9c4dcb1c8b9fa350
194 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042000776
195 https://doi.org/10.1007/s10545-016-9999-9
196 schema:sdDatePublished 2019-04-11T12:44
197 schema:sdLicense https://scigraph.springernature.com/explorer/license/
198 schema:sdPublisher N5ecd5dbfbfc54d40a9c611f7e7055d72
199 schema:url https://link.springer.com/10.1007%2Fs10545-016-9999-9
200 sgo:license sg:explorer/license/
201 sgo:sdDataset articles
202 rdf:type schema:ScholarlyArticle
203 N0ce452a0fd034ee7864ba96ebed80e1c rdf:first sg:person.0647774010.81
204 rdf:rest N92e2bb4d63854b229b3b940801f9a04d
205 N0d12983ce0764f46b73ffc45c2e702d7 rdf:first sg:person.01022514741.41
206 rdf:rest Ncbec89ba2b494dfb91e427875179b8db
207 N12120d12bfa449209536833e27d6a5f1 rdf:first N899b6c8ad7c8480786efafed12be8b32
208 rdf:rest rdf:nil
209 N16d4eb92bce94cb4b7d35a9f711736bf rdf:first sg:person.0671610105.06
210 rdf:rest N4074a8fc718e4882a278c812ef641654
211 N1b94d4ac3c7e4511aa8c547d2f3191d3 rdf:first sg:person.01003414021.13
212 rdf:rest Nad9c43a20ec04bb78e1bcf34dcf99c7a
213 N22824e97b4ac45e5b0b48d4883e63953 rdf:first sg:person.01006142615.61
214 rdf:rest N0ce452a0fd034ee7864ba96ebed80e1c
215 N2a6f1084803b4f8ca88cc15890d86bd7 schema:volumeNumber 40
216 rdf:type schema:PublicationVolume
217 N2cddb42f07ce4048ac463e7fd1cbb035 schema:name Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany
218 rdf:type schema:Organization
219 N2d94b87d2ead4eea976d0d8d504e12a6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
220 schema:name Glutarates
221 rdf:type schema:DefinedTerm
222 N31e9af1a6dfc463cbe5b2e212b4893f9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
223 schema:name Brain Diseases, Metabolic
224 rdf:type schema:DefinedTerm
225 N336283db7add4695899914c576bd2d04 schema:name doi
226 schema:value 10.1007/s10545-016-9999-9
227 rdf:type schema:PropertyValue
228 N37982c06785f45d2aa2f54f4bdf32ded rdf:first sg:person.01343344015.42
229 rdf:rest N386a7303f64847a5a7b83fc69d30a67f
230 N386a7303f64847a5a7b83fc69d30a67f rdf:first sg:person.01225553577.58
231 rdf:rest N12120d12bfa449209536833e27d6a5f1
232 N4074a8fc718e4882a278c812ef641654 rdf:first sg:person.01355003431.51
233 rdf:rest N5c376e11dd354d93b9fc48a41771c92a
234 N49f79b7fc66c4ad28babadc394f05c04 schema:name pubmed_id
235 schema:value 27853989
236 rdf:type schema:PropertyValue
237 N4ab96f101ca244cca57a94cba86463f3 rdf:first sg:person.0772007452.06
238 rdf:rest N922de994cd44480b8dec79a611f1b05d
239 N553274e03ff843d2bd11ef719c8f10cc rdf:first sg:person.01356451051.59
240 rdf:rest N57ac052b646c4faba8120caab9358193
241 N57ac052b646c4faba8120caab9358193 rdf:first sg:person.01345233025.21
242 rdf:rest N591e87885ad744f5bc969a015373c06a
243 N591e87885ad744f5bc969a015373c06a rdf:first sg:person.0723175050.32
244 rdf:rest N0d12983ce0764f46b73ffc45c2e702d7
245 N5a17bd2bbfa242f9b5972be2b508b265 schema:name nlm_unique_id
246 schema:value 7910918
247 rdf:type schema:PropertyValue
248 N5c20eb3a0c94400880fba2e3458b6da9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
249 schema:name Amino Acid Metabolism, Inborn Errors
250 rdf:type schema:DefinedTerm
251 N5c376e11dd354d93b9fc48a41771c92a rdf:first sg:person.01117642421.16
252 rdf:rest N1b94d4ac3c7e4511aa8c547d2f3191d3
253 N5ecd5dbfbfc54d40a9c611f7e7055d72 schema:name Springer Nature - SN SciGraph project
254 rdf:type schema:Organization
255 N5ef965b0d3a04a3183cf8bcb075e5919 schema:name Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK
256 rdf:type schema:Organization
257 N77acb7f2ef6c4a2dbf25d2b0fc7b52d6 rdf:first sg:person.01320771410.37
258 rdf:rest N4ab96f101ca244cca57a94cba86463f3
259 N7ac935fca28e4b6db50e07ac674cdf66 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
260 schema:name Humans
261 rdf:type schema:DefinedTerm
262 N7f6f703609f54ef9b91661d224529afa schema:issueNumber 1
263 rdf:type schema:PublicationIssue
264 N84bd17c094bd4266b6600ecb33c048e3 schema:name readcube_id
265 schema:value c812674e3754e9282af37f87100280db4027be5aa2b96d3afa54e214f167a9a8
266 rdf:type schema:PropertyValue
267 N8697e1eaa13f4f31be3f7ddbf4850c1b rdf:first sg:person.0710741406.40
268 rdf:rest Nd6a498e6dcdf45e3a7893ac755fcce1c
269 N899b6c8ad7c8480786efafed12be8b32 schema:familyName Additional individual contributors
270 rdf:type schema:Person
271 N8c9e26f8a2134881bcc59b6533377ebe schema:affiliation https://www.grid.ac/institutes/grid.5253.1
272 schema:familyName Sahm
273 schema:givenName Katja
274 rdf:type schema:Person
275 N922de994cd44480b8dec79a611f1b05d rdf:first sg:person.01060154657.48
276 rdf:rest N553274e03ff843d2bd11ef719c8f10cc
277 N92e2bb4d63854b229b3b940801f9a04d rdf:first Nafe13bea6a2c43399c0bf546d7f517c1
278 rdf:rest N77acb7f2ef6c4a2dbf25d2b0fc7b52d6
279 N99018dfac52446e3bc4828176ce6b1b8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
280 schema:name Lysine
281 rdf:type schema:DefinedTerm
282 Nad9c43a20ec04bb78e1bcf34dcf99c7a rdf:first sg:person.01227115415.42
283 rdf:rest N22824e97b4ac45e5b0b48d4883e63953
284 Nafe13bea6a2c43399c0bf546d7f517c1 schema:affiliation N2cddb42f07ce4048ac463e7fd1cbb035
285 schema:familyName Fleissner
286 schema:givenName Sandra
287 rdf:type schema:Person
288 Nb83de12d14664ff48d5180b9aab90317 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
289 schema:name Glutaryl-CoA Dehydrogenase
290 rdf:type schema:DefinedTerm
291 Nc0a8fce61c014cd6adbb430cbf723b15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
292 schema:name Dietary Supplements
293 rdf:type schema:DefinedTerm
294 Nc8b696ed62894a57af22ba5e4c1db2cf schema:name Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany
295 rdf:type schema:Organization
296 Ncbec89ba2b494dfb91e427875179b8db rdf:first sg:person.01250310716.26
297 rdf:rest N8697e1eaa13f4f31be3f7ddbf4850c1b
298 Nd6a498e6dcdf45e3a7893ac755fcce1c rdf:first N8c9e26f8a2134881bcc59b6533377ebe
299 rdf:rest N37982c06785f45d2aa2f54f4bdf32ded
300 Ndf97a8cac1314ebdb5affbc41a725d5f schema:name Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical, University of Innsbruck, Innsbruck, Austria
301 rdf:type schema:Organization
302 Ne474032bb3e04aad9c4dcb1c8b9fa350 schema:name dimensions_id
303 schema:value pub.1042000776
304 rdf:type schema:PropertyValue
305 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
306 schema:name Medical and Health Sciences
307 rdf:type schema:DefinedTerm
308 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
309 schema:name Clinical Sciences
310 rdf:type schema:DefinedTerm
311 sg:journal.1090550 schema:issn 0141-8955
312 1573-2665
313 schema:name Journal of Inherited Metabolic Disease
314 rdf:type schema:Periodical
315 sg:person.01003414021.13 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
316 schema:familyName Heringer
317 schema:givenName Jana
318 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01003414021.13
319 rdf:type schema:Person
320 sg:person.01006142615.61 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
321 schema:familyName Burgard
322 schema:givenName Peter
323 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006142615.61
324 rdf:type schema:Person
325 sg:person.01022514741.41 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
326 schema:familyName Okun
327 schema:givenName Jürgen G.
328 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022514741.41
329 rdf:type schema:Person
330 sg:person.01060154657.48 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
331 schema:familyName Hoffmann
332 schema:givenName Georg F.
333 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060154657.48
334 rdf:type schema:Person
335 sg:person.01117642421.16 schema:affiliation Nc8b696ed62894a57af22ba5e4c1db2cf
336 schema:familyName Maier
337 schema:givenName Esther M.
338 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117642421.16
339 rdf:type schema:Person
340 sg:person.01225553577.58 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
341 schema:familyName Kölker
342 schema:givenName Stefan
343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225553577.58
344 rdf:type schema:Person
345 sg:person.01227115415.42 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
346 schema:familyName Assmann
347 schema:givenName Birgit
348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227115415.42
349 rdf:type schema:Person
350 sg:person.01250310716.26 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
351 schema:familyName Opladen
352 schema:givenName Thomas
353 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250310716.26
354 rdf:type schema:Person
355 sg:person.01320771410.37 schema:affiliation https://www.grid.ac/institutes/grid.21613.37
356 schema:familyName Greenberg
357 schema:givenName Cheryl R.
358 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320771410.37
359 rdf:type schema:Person
360 sg:person.01343344015.42 schema:affiliation https://www.grid.ac/institutes/grid.5361.1
361 schema:familyName Zschocke
362 schema:givenName Johannes
363 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343344015.42
364 rdf:type schema:Person
365 sg:person.01345233025.21 schema:affiliation https://www.grid.ac/institutes/grid.5288.7
366 schema:familyName Koeller
367 schema:givenName David M.
368 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345233025.21
369 rdf:type schema:Person
370 sg:person.01355003431.51 schema:affiliation https://www.grid.ac/institutes/grid.13648.38
371 schema:familyName Mühlhausen
372 schema:givenName Chris
373 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355003431.51
374 rdf:type schema:Person
375 sg:person.01356451051.59 schema:affiliation Ndf97a8cac1314ebdb5affbc41a725d5f
376 schema:familyName Karall
377 schema:givenName Daniela
378 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01356451051.59
379 rdf:type schema:Person
380 sg:person.0647774010.81 schema:affiliation N5ef965b0d3a04a3183cf8bcb075e5919
381 schema:familyName Dixon
382 schema:givenName Marjorie
383 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647774010.81
384 rdf:type schema:Person
385 sg:person.0671610105.06 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
386 schema:familyName Boy
387 schema:givenName Nikolas
388 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671610105.06
389 rdf:type schema:Person
390 sg:person.0710741406.40 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
391 schema:familyName Posset
392 schema:givenName Roland
393 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710741406.40
394 rdf:type schema:Person
395 sg:person.0723175050.32 schema:affiliation https://www.grid.ac/institutes/grid.8664.c
396 schema:familyName Krawinkel
397 schema:givenName Michael B.
398 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723175050.32
399 rdf:type schema:Person
400 sg:person.0772007452.06 schema:affiliation https://www.grid.ac/institutes/grid.5253.1
401 schema:familyName Harting
402 schema:givenName Inga
403 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772007452.06
404 rdf:type schema:Person
405 sg:pub.10.1007/8904_2014_353 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027153198
406 https://doi.org/10.1007/8904_2014_353
407 rdf:type schema:CreativeWork
408 sg:pub.10.1007/8904_2014_360 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022920018
409 https://doi.org/10.1007/8904_2014_360
410 rdf:type schema:CreativeWork
411 sg:pub.10.1007/8904_2014_377 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015039568
412 https://doi.org/10.1007/8904_2014_377
413 rdf:type schema:CreativeWork
414 sg:pub.10.1007/8904_2016_545 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050434741
415 https://doi.org/10.1007/8904_2016_545
416 rdf:type schema:CreativeWork
417 sg:pub.10.1007/bf00301092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004444811
418 https://doi.org/10.1007/bf00301092
419 rdf:type schema:CreativeWork
420 sg:pub.10.1007/bf01396200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023890519
421 https://doi.org/10.1007/bf01396200
422 rdf:type schema:CreativeWork
423 sg:pub.10.1007/s00234-005-1350-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010682107
424 https://doi.org/10.1007/s00234-005-1350-3
425 rdf:type schema:CreativeWork
426 sg:pub.10.1007/s00247-003-0956-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1002287290
427 https://doi.org/10.1007/s00247-003-0956-z
428 rdf:type schema:CreativeWork
429 sg:pub.10.1007/s00247-015-3395-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051132282
430 https://doi.org/10.1007/s00247-015-3395-8
431 rdf:type schema:CreativeWork
432 sg:pub.10.1007/s002470050420 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014246442
433 https://doi.org/10.1007/s002470050420
434 rdf:type schema:CreativeWork
435 sg:pub.10.1007/s002470050558 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025866982
436 https://doi.org/10.1007/s002470050558
437 rdf:type schema:CreativeWork
438 sg:pub.10.1007/s00431-003-1182-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1075268801
439 https://doi.org/10.1007/s00431-003-1182-2
440 rdf:type schema:CreativeWork
441 sg:pub.10.1007/s00431-007-0556-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036569339
442 https://doi.org/10.1007/s00431-007-0556-2
443 rdf:type schema:CreativeWork
444 sg:pub.10.1007/s00431-016-2734-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010430761
445 https://doi.org/10.1007/s00431-016-2734-6
446 rdf:type schema:CreativeWork
447 sg:pub.10.1007/s00439-011-1086-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016409146
448 https://doi.org/10.1007/s00439-011-1086-6
449 rdf:type schema:CreativeWork
450 sg:pub.10.1007/s004670050794 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027846365
451 https://doi.org/10.1007/s004670050794
452 rdf:type schema:CreativeWork
453 sg:pub.10.1007/s007010070058 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044500101
454 https://doi.org/10.1007/s007010070058
455 rdf:type schema:CreativeWork
456 sg:pub.10.1007/s10048-015-0456-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1004817881
457 https://doi.org/10.1007/s10048-015-0456-y
458 rdf:type schema:CreativeWork
459 sg:pub.10.1007/s10545-005-0457-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010681816
460 https://doi.org/10.1007/s10545-005-0457-3
461 rdf:type schema:CreativeWork
462 sg:pub.10.1007/s10545-006-0284-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028868495
463 https://doi.org/10.1007/s10545-006-0284-1
464 rdf:type schema:CreativeWork
465 sg:pub.10.1007/s10545-006-0332-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026489864
466 https://doi.org/10.1007/s10545-006-0332-x
467 rdf:type schema:CreativeWork
468 sg:pub.10.1007/s10545-006-0451-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035518805
469 https://doi.org/10.1007/s10545-006-0451-4
470 rdf:type schema:CreativeWork
471 sg:pub.10.1007/s10545-008-0912-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1018364577
472 https://doi.org/10.1007/s10545-008-0912-z
473 rdf:type schema:CreativeWork
474 sg:pub.10.1007/s10545-009-1167-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1015866307
475 https://doi.org/10.1007/s10545-009-1167-z
476 rdf:type schema:CreativeWork
477 sg:pub.10.1007/s10545-009-9017-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018071824
478 https://doi.org/10.1007/s10545-009-9017-6
479 rdf:type schema:CreativeWork
480 sg:pub.10.1007/s10545-010-9048-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1018724069
481 https://doi.org/10.1007/s10545-010-9048-z
482 rdf:type schema:CreativeWork
483 sg:pub.10.1007/s10545-010-9223-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032502664
484 https://doi.org/10.1007/s10545-010-9223-2
485 rdf:type schema:CreativeWork
486 sg:pub.10.1007/s10545-011-9289-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026343495
487 https://doi.org/10.1007/s10545-011-9289-5
488 rdf:type schema:CreativeWork
489 sg:pub.10.1007/s10545-011-9405-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019080616
490 https://doi.org/10.1007/s10545-011-9405-6
491 rdf:type schema:CreativeWork
492 sg:pub.10.1007/s10545-011-9437-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1050312204
493 https://doi.org/10.1007/s10545-011-9437-y
494 rdf:type schema:CreativeWork
495 sg:pub.10.1007/s10545-012-9483-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017933801
496 https://doi.org/10.1007/s10545-012-9483-0
497 rdf:type schema:CreativeWork
498 sg:pub.10.1007/s10545-012-9517-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029151240
499 https://doi.org/10.1007/s10545-012-9517-7
500 rdf:type schema:CreativeWork
501 sg:pub.10.1007/s10545-013-9639-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033535518
502 https://doi.org/10.1007/s10545-013-9639-6
503 rdf:type schema:CreativeWork
504 sg:pub.10.1007/s10545-014-9676-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029229991
505 https://doi.org/10.1007/s10545-014-9676-9
506 rdf:type schema:CreativeWork
507 sg:pub.10.1007/s10545-014-9727-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005790504
508 https://doi.org/10.1007/s10545-014-9727-2
509 rdf:type schema:CreativeWork
510 sg:pub.10.1007/s10545-015-9826-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012460979
511 https://doi.org/10.1007/s10545-015-9826-8
512 rdf:type schema:CreativeWork
513 sg:pub.10.1007/s10545-015-9839-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034689676
514 https://doi.org/10.1007/s10545-015-9839-3
515 rdf:type schema:CreativeWork
516 sg:pub.10.1007/s10545-015-9840-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1038973483
517 https://doi.org/10.1007/s10545-015-9840-x
518 rdf:type schema:CreativeWork
519 sg:pub.10.1007/s10545-015-9887-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008155643
520 https://doi.org/10.1007/s10545-015-9887-8
521 rdf:type schema:CreativeWork
522 sg:pub.10.1007/s10545-016-9931-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003762312
523 https://doi.org/10.1007/s10545-016-9931-3
524 rdf:type schema:CreativeWork
525 sg:pub.10.1007/s11011-012-9349-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1036194767
526 https://doi.org/10.1007/s11011-012-9349-z
527 rdf:type schema:CreativeWork
528 sg:pub.10.1007/s12024-015-9698-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012277462
529 https://doi.org/10.1007/s12024-015-9698-0
530 rdf:type schema:CreativeWork
531 sg:pub.10.1023/a:1005683222187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006833641
532 https://doi.org/10.1023/a:1005683222187
533 rdf:type schema:CreativeWork
534 sg:pub.10.1023/a:1022040422590 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037274569
535 https://doi.org/10.1023/a:1022040422590
536 rdf:type schema:CreativeWork
537 sg:pub.10.1023/a:1024087832406 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033782934
538 https://doi.org/10.1023/a:1024087832406
539 rdf:type schema:CreativeWork
540 sg:pub.10.1023/a:1024485117095 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033789040
541 https://doi.org/10.1023/a:1024485117095
542 rdf:type schema:CreativeWork
543 sg:pub.10.1023/b:boli.0000005635.89043.8a schema:sameAs https://app.dimensions.ai/details/publication/pub.1014987179
544 https://doi.org/10.1023/b:boli.0000005635.89043.8a
545 rdf:type schema:CreativeWork
546 sg:pub.10.1023/b:boli.0000045769.96657.af schema:sameAs https://app.dimensions.ai/details/publication/pub.1002169902
547 https://doi.org/10.1023/b:boli.0000045769.96657.af
548 rdf:type schema:CreativeWork
549 sg:pub.10.1023/b:boli.0000045770.93429.3c schema:sameAs https://app.dimensions.ai/details/publication/pub.1026556431
550 https://doi.org/10.1023/b:boli.0000045770.93429.3c
551 rdf:type schema:CreativeWork
552 sg:pub.10.1023/b:boli.0000045771.66300.2a schema:sameAs https://app.dimensions.ai/details/publication/pub.1004150613
553 https://doi.org/10.1023/b:boli.0000045771.66300.2a
554 rdf:type schema:CreativeWork
555 sg:pub.10.1023/b:boli.0000045775.03183.48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047175347
556 https://doi.org/10.1023/b:boli.0000045775.03183.48
557 rdf:type schema:CreativeWork
558 sg:pub.10.1023/b:boli.0000045776.50573.52 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006168024
559 https://doi.org/10.1023/b:boli.0000045776.50573.52
560 rdf:type schema:CreativeWork
561 sg:pub.10.1023/b:boli.0000045777.82784.74 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038900221
562 https://doi.org/10.1023/b:boli.0000045777.82784.74
563 rdf:type schema:CreativeWork
564 sg:pub.10.1038/nm.3145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004485531
565 https://doi.org/10.1038/nm.3145
566 rdf:type schema:CreativeWork
567 sg:pub.10.1186/1750-1172-8-167 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009882343
568 https://doi.org/10.1186/1750-1172-8-167
569 rdf:type schema:CreativeWork
570 sg:pub.10.1186/s13023-015-0379-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045448231
571 https://doi.org/10.1186/s13023-015-0379-6
572 rdf:type schema:CreativeWork
573 sg:pub.10.1203/00006450-200009000-00009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037936094
574 https://doi.org/10.1203/00006450-200009000-00009
575 rdf:type schema:CreativeWork
576 sg:pub.10.1203/01.pdr.0000181378.98593.3e schema:sameAs https://app.dimensions.ai/details/publication/pub.1014291286
577 https://doi.org/10.1203/01.pdr.0000181378.98593.3e
578 rdf:type schema:CreativeWork
579 sg:pub.10.1203/01.pdr.0000219387.79887.86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030369999
580 https://doi.org/10.1203/01.pdr.0000219387.79887.86
581 rdf:type schema:CreativeWork
582 sg:pub.10.1203/pdr.0b013e318137a124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037122728
583 https://doi.org/10.1203/pdr.0b013e318137a124
584 rdf:type schema:CreativeWork
585 https://app.dimensions.ai/details/publication/pub.1075003300 schema:CreativeWork
586 https://app.dimensions.ai/details/publication/pub.1077617727 schema:CreativeWork
587 https://app.dimensions.ai/details/publication/pub.1077921664 schema:CreativeWork
588 https://app.dimensions.ai/details/publication/pub.1078181451 schema:CreativeWork
589 https://app.dimensions.ai/details/publication/pub.1078981227 schema:CreativeWork
590 https://app.dimensions.ai/details/publication/pub.1079049425 schema:CreativeWork
591 https://app.dimensions.ai/details/publication/pub.1082434018 schema:CreativeWork
592 https://app.dimensions.ai/details/publication/pub.1082890045 schema:CreativeWork
593 https://app.dimensions.ai/details/publication/pub.1083081145 schema:CreativeWork
594 https://doi.org/10.1002/(sici)1098-1004(1998)12:3<141::aid-humu1>3.0.co;2-k schema:sameAs https://app.dimensions.ai/details/publication/pub.1052376776
595 rdf:type schema:CreativeWork
596 https://doi.org/10.1002/14651858.cd006659.pub2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048052968
597 rdf:type schema:CreativeWork
598 https://doi.org/10.1002/ajmg.1320410122 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049748072
599 rdf:type schema:CreativeWork
600 https://doi.org/10.1002/ajmg.c.20007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042081307
601 rdf:type schema:CreativeWork
602 https://doi.org/10.1002/ana.22095 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021731054
603 rdf:type schema:CreativeWork
604 https://doi.org/10.1002/mds.10442 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001724384
605 rdf:type schema:CreativeWork
606 https://doi.org/10.1002/mds.22313 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025239814
607 rdf:type schema:CreativeWork
608 https://doi.org/10.1002/mds.25722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039507587
609 rdf:type schema:CreativeWork
610 https://doi.org/10.1002/mds.870090105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000401731
611 rdf:type schema:CreativeWork
612 https://doi.org/10.1002/pd.392 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046001693
613 rdf:type schema:CreativeWork
614 https://doi.org/10.1006/mgme.2001.3270 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046207914
615 rdf:type schema:CreativeWork
616 https://doi.org/10.1016/0002-8223(94)90245-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010566545
617 rdf:type schema:CreativeWork
618 https://doi.org/10.1016/0006-2944(75)90091-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037791158
619 rdf:type schema:CreativeWork
620 https://doi.org/10.1016/0009-8981(83)90155-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002632281
621 rdf:type schema:CreativeWork
622 https://doi.org/10.1016/j.bbadis.2013.04.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010992314
623 rdf:type schema:CreativeWork
624 https://doi.org/10.1016/j.braindev.2013.11.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010834898
625 rdf:type schema:CreativeWork
626 https://doi.org/10.1016/j.braindev.2014.09.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015073933
627 rdf:type schema:CreativeWork
628 https://doi.org/10.1016/j.braindev.2015.05.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006081239
629 rdf:type schema:CreativeWork
630 https://doi.org/10.1016/j.cccn.2005.03.048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007774134
631 rdf:type schema:CreativeWork
632 https://doi.org/10.1016/j.ejmhg.2014.01.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023064073
633 rdf:type schema:CreativeWork
634 https://doi.org/10.1016/j.ejpn.2003.12.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015037259
635 rdf:type schema:CreativeWork
636 https://doi.org/10.1016/j.ejpn.2006.11.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031450718
637 rdf:type schema:CreativeWork
638 https://doi.org/10.1016/j.ejpn.2013.01.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007100267
639 rdf:type schema:CreativeWork
640 https://doi.org/10.1016/j.ejpn.2015.09.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043666597
641 rdf:type schema:CreativeWork
642 https://doi.org/10.1016/j.ijep.2015.02.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034403024
643 rdf:type schema:CreativeWork
644 https://doi.org/10.1016/j.jchromb.2005.03.031 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008661352
645 rdf:type schema:CreativeWork
646 https://doi.org/10.1016/j.jclinane.2012.06.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043729170
647 rdf:type schema:CreativeWork
648 https://doi.org/10.1016/j.jclinepi.2010.04.026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004434997
649 rdf:type schema:CreativeWork
650 https://doi.org/10.1016/j.pediatrneurol.2008.12.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031209097
651 rdf:type schema:CreativeWork
652 https://doi.org/10.1016/j.ymgme.2004.09.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015676846
653 rdf:type schema:CreativeWork
654 https://doi.org/10.1016/j.ymgme.2005.08.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032418507
655 rdf:type schema:CreativeWork
656 https://doi.org/10.1016/j.ymgme.2005.11.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053440634
657 rdf:type schema:CreativeWork
658 https://doi.org/10.1016/j.ymgme.2005.12.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000415792
659 rdf:type schema:CreativeWork
660 https://doi.org/10.1016/j.ymgme.2008.01.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049047892
661 rdf:type schema:CreativeWork
662 https://doi.org/10.1016/j.ymgme.2008.03.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031258193
663 rdf:type schema:CreativeWork
664 https://doi.org/10.1016/j.ymgme.2010.07.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022149066
665 rdf:type schema:CreativeWork
666 https://doi.org/10.1016/j.ymgme.2010.11.159 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049671196
667 rdf:type schema:CreativeWork
668 https://doi.org/10.1016/j.ymgme.2011.07.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045066457
669 rdf:type schema:CreativeWork
670 https://doi.org/10.1016/j.ymgme.2012.03.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016461721
671 rdf:type schema:CreativeWork
672 https://doi.org/10.1016/j.ymgme.2012.05.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003805151
673 rdf:type schema:CreativeWork
674 https://doi.org/10.1016/j.ymgme.2012.05.024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048688985
675 rdf:type schema:CreativeWork
676 https://doi.org/10.1016/s0022-3476(05)81843-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006428139
677 rdf:type schema:CreativeWork
678 https://doi.org/10.1016/s0022-3476(79)80048-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042613444
679 rdf:type schema:CreativeWork
680 https://doi.org/10.1016/s0022-3476(88)80123-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026894639
681 rdf:type schema:CreativeWork
682 https://doi.org/10.1016/s0022-3476(95)70395-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031491806
683 rdf:type schema:CreativeWork
684 https://doi.org/10.1016/s0140-6736(08)61078-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047418555
685 rdf:type schema:CreativeWork
686 https://doi.org/10.1017/s0012162299000870 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054777610
687 rdf:type schema:CreativeWork
688 https://doi.org/10.1021/bi049290c schema:sameAs https://app.dimensions.ai/details/publication/pub.1055199664
689 rdf:type schema:CreativeWork
690 https://doi.org/10.1055/s-0032-1306384 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057258435
691 rdf:type schema:CreativeWork
692 https://doi.org/10.1055/s-2003-43261 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057425503
693 rdf:type schema:CreativeWork
694 https://doi.org/10.1055/s-2007-973761 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057506028
695 rdf:type schema:CreativeWork
696 https://doi.org/10.1056/nejmoa025225 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008064361
697 rdf:type schema:CreativeWork
698 https://doi.org/10.1067/mpd.2000.108954 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029816651
699 rdf:type schema:CreativeWork
700 https://doi.org/10.1093/brain/awm058 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009149092
701 rdf:type schema:CreativeWork
702 https://doi.org/10.1093/brain/awp112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052592386
703 rdf:type schema:CreativeWork
704 https://doi.org/10.1093/brain/awq269 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043171427
705 rdf:type schema:CreativeWork
706 https://doi.org/10.1093/hmg/4.3.493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645355
707 rdf:type schema:CreativeWork
708 https://doi.org/10.1093/oxfordjournals.pubmed.a024777 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048686791
709 rdf:type schema:CreativeWork
710 https://doi.org/10.1097/00004728-200401000-00016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050518020
711 rdf:type schema:CreativeWork
712 https://doi.org/10.1097/01.rli.0000080405.62988.f6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044846223
713 rdf:type schema:CreativeWork
714 https://doi.org/10.1111/dmcn.12117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041847805
715 rdf:type schema:CreativeWork
716 https://doi.org/10.1111/dmcn.12965 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030176287
717 rdf:type schema:CreativeWork
718 https://doi.org/10.1111/j.1365-277x.2012.01269.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043591975
719 rdf:type schema:CreativeWork
720 https://doi.org/10.1111/j.1440-1754.2012.02513.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1028182628
721 rdf:type schema:CreativeWork
722 https://doi.org/10.1111/j.1469-8749.1999.tb00626.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1017302448
723 rdf:type schema:CreativeWork
724 https://doi.org/10.1111/j.1469-8749.2008.03240.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1040494108
725 rdf:type schema:CreativeWork
726 https://doi.org/10.1111/j.1469-8749.2009.03581.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1027302053
727 rdf:type schema:CreativeWork
728 https://doi.org/10.1111/pde.12067 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037793722
729 rdf:type schema:CreativeWork
730 https://doi.org/10.1136/adc.67.11.1387 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019602081
731 rdf:type schema:CreativeWork
732 https://doi.org/10.1136/adc.80.5.404 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062759070
733 rdf:type schema:CreativeWork
734 https://doi.org/10.1136/adc.82.1.67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019454988
735 rdf:type schema:CreativeWork
736 https://doi.org/10.1136/bmj.330.7492.644 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003153124
737 rdf:type schema:CreativeWork
738 https://doi.org/10.1136/jmg.37.3.177 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028791717
739 rdf:type schema:CreativeWork
740 https://doi.org/10.1152/ajpendo.1993.265.4.e532 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082716862
741 rdf:type schema:CreativeWork
742 https://doi.org/10.1155/2014/256356 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046932028
743 rdf:type schema:CreativeWork
744 https://doi.org/10.1159/000077405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044811067
745 rdf:type schema:CreativeWork
746 https://doi.org/10.1172/jci31617 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022612829
747 rdf:type schema:CreativeWork
748 https://doi.org/10.1177/01486071050290s1s70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024829764
749 rdf:type schema:CreativeWork
750 https://doi.org/10.1177/0883073807302601 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063854456
751 rdf:type schema:CreativeWork
752 https://doi.org/10.1177/0883073808322668 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063854752
753 rdf:type schema:CreativeWork
754 https://doi.org/10.1177/0883073814541479 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041281746
755 rdf:type schema:CreativeWork
756 https://doi.org/10.1196/annals.1444.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008686643
757 rdf:type schema:CreativeWork
758 https://doi.org/10.1212/01.wnl.0000036616.11962.3c schema:sameAs https://app.dimensions.ai/details/publication/pub.1064344788
759 rdf:type schema:CreativeWork
760 https://doi.org/10.1212/01.wnl.0000167428.12417.b2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064347183
761 rdf:type schema:CreativeWork
762 https://doi.org/10.1212/01.wnl.0000437291.75075.53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010498623
763 rdf:type schema:CreativeWork
764 https://doi.org/10.1212/wnl.0b013e31822313f6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018085732
765 rdf:type schema:CreativeWork
766 https://doi.org/10.1212/wnl.0b013e3182a2cbf2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064357925
767 rdf:type schema:CreativeWork
768 https://doi.org/10.1212/wnl.36.2.264 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064366424
769 rdf:type schema:CreativeWork
770 https://doi.org/10.12659/msm.881834 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027297157
771 rdf:type schema:CreativeWork
772 https://doi.org/10.1373/clinchem.2003.022178 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028972287
773 rdf:type schema:CreativeWork
774 https://doi.org/10.1542/peds.107.1.174 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067820864
775 rdf:type schema:CreativeWork
776 https://doi.org/10.1542/peds.107.5.1184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067821041
777 rdf:type schema:CreativeWork
778 https://doi.org/10.1542/peds.2005-2633i schema:sameAs https://app.dimensions.ai/details/publication/pub.1077247564
779 rdf:type schema:CreativeWork
780 https://doi.org/10.2337/dc13-0724 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045879601
781 rdf:type schema:CreativeWork
782 https://doi.org/10.3171/2011.8.peds11153 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071077036
783 rdf:type schema:CreativeWork
784 https://doi.org/10.3171/jns.1995.82.6.1078 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071097643
785 rdf:type schema:CreativeWork
786 https://doi.org/10.3174/ajnr.a2869 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033518785
787 rdf:type schema:CreativeWork
788 https://doi.org/10.4103/0972-2327.93273 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029899693
789 rdf:type schema:CreativeWork
790 https://www.grid.ac/institutes/grid.13648.38 schema:alternateName University Medical Center Hamburg-Eppendorf
791 schema:name University Children’s Hospital, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, D-20246, Hamburg, Germany
792 rdf:type schema:Organization
793 https://www.grid.ac/institutes/grid.21613.37 schema:alternateName University of Manitoba
794 schema:name Department of Biochemistry and Medical Genetics, Children’s Hospital Health Sciences Centre and University of Manitoba, R3A 1R9, Winnipeg, MB, Canada
795 Department of Pediatrics, Children’s Hospital Health Sciences Centre and University of Manitoba, R3A 1R9, Winnipeg, MB, Canada
796 rdf:type schema:Organization
797 https://www.grid.ac/institutes/grid.5253.1 schema:alternateName University Hospital Heidelberg
798 schema:name Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany
799 Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany
800 rdf:type schema:Organization
801 https://www.grid.ac/institutes/grid.5288.7 schema:alternateName Oregon Health & Science University
802 schema:name Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA
803 rdf:type schema:Organization
804 https://www.grid.ac/institutes/grid.5361.1 schema:alternateName Innsbruck Medical University
805 schema:name Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
806 rdf:type schema:Organization
807 https://www.grid.ac/institutes/grid.8664.c schema:alternateName University of Giessen
808 schema:name Justus Liebig University Giessen, Institute of Nutritional Science, Giessen, Germany
809 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...