Branched-chain Organic Acidurias /Acidaemias View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2016

AUTHORS

Manuel Schiff , Hélène Ogier de Baulny , Carlo Dionisi-Vici

ABSTRACT

The three essential branched-chain amino acids (BCAAs), leucine , isoleucine and valine , are initially catabolised by a common pathway (◘ Fig. 18.1). The first reaction, which occurs primarily in muscle, involves reversible transamination to 2-oxo- (or keto) acids and is followed by oxidative decarboxylation to coenzyme A (CoA) derivatives by branched-chain oxo- (or keto) acid dehydrogenase (BCKD). More... »

PAGES

277-294

References to SciGraph publications

  • 2014-12. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-05. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-09. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria in NATURE GENETICS
  • 1993-02. Tubulointerstitial nephritis in methylmalonic acidemia in PEDIATRIC NEPHROLOGY
  • 2012-12. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals in ORPHANET JOURNAL OF RARE DISEASES
  • 2006-09. Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening in PEDIATRIC RESEARCH
  • 2000-07. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-09-27. Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/3
  • 2007-02. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-07. Stable isotope studies in propionic and methylmalonic acidaemia in EUROPEAN JOURNAL OF PEDIATRICS
  • 2001-11. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators in PEDIATRIC NEPHROLOGY
  • 2016-03. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014. Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? in JIMD REPORTS, VOLUME 21
  • 2002-08. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications in HUMAN GENETICS
  • 2009-10. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-04. Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-02. Intellectual performance of children with maple syrup urine disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 2015-09. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-04. Utility of hemodialysis in maple syrup urine disease in PEDIATRIC NEPHROLOGY
  • 2006-04. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2005-05. Methylmalonic and propionic acidaemias: Management and outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-07. The management and outcome of propionic and methylmalonic acidaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-02. Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-03. Long-term follow-up of 77 patients with isolated methylamalonic acidaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-08. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD in GENETICS IN MEDICINE
  • 2014. Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report in JIMD REPORTS, VOLUME 21
  • 2016-03. 3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-12. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-11. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation in JOURNAL OF HUMAN GENETICS
  • 2010-12. Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-07. Lipoic acid biosynthesis defects in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-12. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11. Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-01. Impact of Longitudinal Plasma Leucine Levels on the Intellectual Outcome in Patients with Classic MSUD in PEDIATRIC RESEARCH
  • 2013-11. 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-06. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia in EUROPEAN JOURNAL OF PEDIATRICS
  • 2013-12. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase in ORPHANET JOURNAL OF RARE DISEASES
  • 2007-02. Development of a newborn screening follow‐up algorithm for the diagnosis of isobutyryl‐CoA dehydrogenase deficiency in GENETICS IN MEDICINE
  • Book

    TITLE

    Inborn Metabolic Diseases

    ISBN

    978-3-662-49769-2
    978-3-662-49771-5

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-3-662-49771-5_18

    DOI

    http://dx.doi.org/10.1007/978-3-662-49771-5_18

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1052234797


    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/2008/0601", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biochemistry and Cell Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "name": [
                "Service de Neurologie P\u00e9diatrique et des Maladies M\u00e9taboliques, H\u00f4pital Robert D\u00e9bre"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schiff", 
            "givenName": "Manuel", 
            "id": "sg:person.01036301407.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036301407.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de Neurologie et Maladies M\u00e9taboliques, H\u00f4pital Robert Debr\u00e9"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Baulny", 
            "givenName": "H\u00e9l\u00e8ne Ogier", 
            "id": "sg:person.0724754007.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Metabolism, Bambino Ges\u00f9 Children\u2019s Hospital"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dionisi-Vici", 
            "givenName": "Carlo", 
            "id": "sg:person.0747024472.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747024472.82"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1016/s0969-2126(00)00105-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000270077"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/pl00014275", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000372223", 
              "https://doi.org/10.1007/pl00014275"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2006.03.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000512147"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-3046.2006.00585.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000525713"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/ajt.13027", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000761360"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2014.12.013", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001095464"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-001-0801-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001188454", 
              "https://doi.org/10.1007/s00467-001-0801-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-012-9570-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001632498", 
              "https://doi.org/10.1007/s10545-012-9570-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000190571.60385.34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001873909", 
              "https://doi.org/10.1203/01.pdr.0000190571.60385.34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000190571.60385.34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001873909", 
              "https://doi.org/10.1203/01.pdr.0000190571.60385.34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000190571.60385.34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001873909", 
              "https://doi.org/10.1203/01.pdr.0000190571.60385.34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1525-1470.2007.00505.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001970342"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1224631", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002862415"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-3046.2006.00569.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003091735"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2014.157", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003953419", 
              "https://doi.org/10.1038/gim.2014.157"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.20373", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005006187"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.32561", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007047581"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.23013", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007372048"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpeds.2015.08.022", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007393885"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-015-9894-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007676568", 
              "https://doi.org/10.1007/s10545-015-9894-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1007/s10545-015-9894-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007676568"
            ], 
            "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/s10545-014-9705-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009257492", 
              "https://doi.org/10.1007/s10545-014-9705-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-006-0351-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009413725", 
              "https://doi.org/10.1007/s10545-006-0351-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-8-188", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009603281", 
              "https://doi.org/10.1186/1750-1172-8-188"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2009.12.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009621336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajo.2008.12.024", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010300088"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1096-7192(02)00197-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010391981"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1096-7192(02)00197-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010391981"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2013.05.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010542709"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-006-0514-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010676464", 
              "https://doi.org/10.1007/s10545-006-0514-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmedgenet-2011-100230", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011812779"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpeds.2006.11.043", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012534680"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-3046.2011.01607.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012656382"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00710054", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013275171", 
              "https://doi.org/10.1007/bf00710054"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1159/000255168", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014583165"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004670100702", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014867763", 
              "https://doi.org/10.1007/s004670100702"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(96)70162-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015058611"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpeds.2009.07.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015132800"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2014.79", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015383107", 
              "https://doi.org/10.1038/jhg.2014.79"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2014.79", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015383107", 
              "https://doi.org/10.1038/jhg.2014.79"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1600-6143.2005.01209.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018695303"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awu216", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019621210"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/acn3.189", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019715295"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-007-0571-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020562618", 
              "https://doi.org/10.1007/s10545-007-0571-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-3046.2008.01029.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021077957"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.908", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023061171", 
              "https://doi.org/10.1038/ng.908"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-009-1189-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023555604", 
              "https://doi.org/10.1007/s10545-009-1189-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-009-1189-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023555604", 
              "https://doi.org/10.1007/s10545-009-1189-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf02072492", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024156671", 
              "https://doi.org/10.1007/bf02072492"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf02072492", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024156671", 
              "https://doi.org/10.1007/bf02072492"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1097-4598(200102)24:2<284::aid-mus140>3.0.co;2-u", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024237665"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2014_401", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024504794", 
              "https://doi.org/10.1007/8904_2014_401"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(96)70081-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024663761"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000233085.72522.04", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025136954", 
              "https://doi.org/10.1203/01.pdr.0000233085.72522.04"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000233085.72522.04", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025136954", 
              "https://doi.org/10.1203/01.pdr.0000233085.72522.04"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22242", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025393908"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2007.09.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026402690"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-7-31", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026835876", 
              "https://doi.org/10.1186/1750-1172-7-31"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e31802f78d6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028176545", 
              "https://doi.org/10.1097/gim.0b013e31802f78d6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e31802f78d6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028176545", 
              "https://doi.org/10.1097/gim.0b013e31802f78d6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2007.06.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030344114"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-006-0278-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032422161", 
              "https://doi.org/10.1007/s10545-006-0278-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-8-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032993058", 
              "https://doi.org/10.1186/1750-1172-8-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2014_393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034383823", 
              "https://doi.org/10.1007/8904_2014_393"
            ], 
            "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": "https://doi.org/10.1016/j.jpeds.2011.06.033", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035091961"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-011-9381-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035709297", 
              "https://doi.org/10.1007/s10545-011-9381-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpeds.2015.01.051", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035799503"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00861581", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037201413", 
              "https://doi.org/10.1007/bf00861581"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2011_66", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039801937", 
              "https://doi.org/10.1007/8904_2011_66"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2011_66", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039801937", 
              "https://doi.org/10.1007/8904_2011_66"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.clinbiochem.2008.10.006", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040260095"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00711749", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040816267", 
              "https://doi.org/10.1007/bf00711749"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-012-9579-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040977340", 
              "https://doi.org/10.1007/s10545-012-9579-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2004.01.016", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042547063"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-010-1362-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043975156", 
              "https://doi.org/10.1007/s00431-010-1362-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/lt.20744", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044436120"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m109.050674", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044646109"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1522-2586(200006)11:6<596::aid-jmri4>3.0.co;2-p", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045994678"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1005616315087", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046744903", 
              "https://doi.org/10.1023/a:1005616315087"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2005.11.016", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047301156"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-014-0130-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047327138", 
              "https://doi.org/10.1186/s13023-014-0130-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-014-0130-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047327138", 
              "https://doi.org/10.1186/s13023-014-0130-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.c.30089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047735259"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.c.30089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047735259"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-005-7056-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048516480", 
              "https://doi.org/10.1007/s10545-005-7056-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-014-9802-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049133129", 
              "https://doi.org/10.1007/s10545-014-9802-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-015-9906-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049822581", 
              "https://doi.org/10.1007/s10545-015-9906-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(89)80071-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049850448"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-8-148", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050135217", 
              "https://doi.org/10.1186/1750-1172-8-148"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.2015-0175", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051873629"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-010-9137-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052502119", 
              "https://doi.org/10.1007/s10545-010-9137-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-002-0761-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053552461", 
              "https://doi.org/10.1007/s00439-002-0761-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-002-0761-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053552461", 
              "https://doi.org/10.1007/s00439-002-0761-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/0883073813508812", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053825053"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/0883073813508812", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053825053"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/426318", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058714655"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.109.6.999", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1067821585"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.111.6.1399", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1067822097"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2016", 
        "datePublishedReg": "2016-01-01", 
        "description": "The three essential branched-chain amino acids (BCAAs), leucine , isoleucine and valine , are initially catabolised by a common pathway (\u25d8 Fig. 18.1). The first reaction, which occurs primarily in muscle, involves reversible transamination to 2-oxo- (or keto) acids and is followed by oxidative decarboxylation to coenzyme A (CoA) derivatives by branched-chain oxo- (or keto) acid dehydrogenase (BCKD).", 
        "editor": [
          {
            "familyName": "Saudubray", 
            "givenName": "Jean-Marie", 
            "type": "Person"
          }, 
          {
            "familyName": "Baumgartner", 
            "givenName": "Matthias R.", 
            "type": "Person"
          }, 
          {
            "familyName": "Walter", 
            "givenName": "John", 
            "type": "Person"
          }
        ], 
        "genre": "chapter", 
        "id": "sg:pub.10.1007/978-3-662-49771-5_18", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": {
          "isbn": [
            "978-3-662-49769-2", 
            "978-3-662-49771-5"
          ], 
          "name": "Inborn Metabolic Diseases", 
          "type": "Book"
        }, 
        "name": "Branched-chain Organic Acidurias /Acidaemias", 
        "pagination": "277-294", 
        "productId": [
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/978-3-662-49771-5_18"
            ]
          }, 
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "f8cfb4fbc61425dfefd4496eb236f39711eddc7f2db94a79c33804cf008ac325"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1052234797"
            ]
          }
        ], 
        "publisher": {
          "location": "Berlin, Heidelberg", 
          "name": "Springer Berlin Heidelberg", 
          "type": "Organisation"
        }, 
        "sameAs": [
          "https://doi.org/10.1007/978-3-662-49771-5_18", 
          "https://app.dimensions.ai/details/publication/pub.1052234797"
        ], 
        "sdDataset": "chapters", 
        "sdDatePublished": "2019-04-15T23:42", 
        "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/v90/0000000001_0000000264/records_8697_00000090.jsonl", 
        "type": "Chapter", 
        "url": "http://link.springer.com/10.1007/978-3-662-49771-5_18"
      }
    ]
     

    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.10.1007/978-3-662-49771-5_18'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-49771-5_18'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-49771-5_18'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-49771-5_18'


     

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

    392 TRIPLES      23 PREDICATES      114 URIs      20 LITERALS      8 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/978-3-662-49771-5_18 schema:about anzsrc-for:06
    2 anzsrc-for:0601
    3 schema:author N7655d528cf944536bcacdccd012b3d70
    4 schema:citation sg:pub.10.1007/8904_2011_66
    5 sg:pub.10.1007/8904_2014_393
    6 sg:pub.10.1007/8904_2014_401
    7 sg:pub.10.1007/bf00710054
    8 sg:pub.10.1007/bf00711749
    9 sg:pub.10.1007/bf00861581
    10 sg:pub.10.1007/bf02072492
    11 sg:pub.10.1007/pl00014275
    12 sg:pub.10.1007/s00431-010-1362-9
    13 sg:pub.10.1007/s00439-002-0761-z
    14 sg:pub.10.1007/s00467-001-0801-2
    15 sg:pub.10.1007/s004670100702
    16 sg:pub.10.1007/s10545-005-7056-1
    17 sg:pub.10.1007/s10545-006-0278-z
    18 sg:pub.10.1007/s10545-006-0351-7
    19 sg:pub.10.1007/s10545-006-0514-6
    20 sg:pub.10.1007/s10545-007-0571-5
    21 sg:pub.10.1007/s10545-009-1189-6
    22 sg:pub.10.1007/s10545-010-9137-z
    23 sg:pub.10.1007/s10545-011-9381-x
    24 sg:pub.10.1007/s10545-012-9570-2
    25 sg:pub.10.1007/s10545-012-9579-6
    26 sg:pub.10.1007/s10545-014-9705-8
    27 sg:pub.10.1007/s10545-014-9802-8
    28 sg:pub.10.1007/s10545-015-9839-3
    29 sg:pub.10.1007/s10545-015-9894-9
    30 sg:pub.10.1007/s10545-015-9906-9
    31 sg:pub.10.1023/a:1005616315087
    32 sg:pub.10.1038/gim.2014.157
    33 sg:pub.10.1038/jhg.2014.79
    34 sg:pub.10.1038/ng.908
    35 sg:pub.10.1097/gim.0b013e31802f78d6
    36 sg:pub.10.1186/1750-1172-7-31
    37 sg:pub.10.1186/1750-1172-8-148
    38 sg:pub.10.1186/1750-1172-8-188
    39 sg:pub.10.1186/1750-1172-8-6
    40 sg:pub.10.1186/s13023-014-0130-8
    41 sg:pub.10.1203/01.pdr.0000190571.60385.34
    42 sg:pub.10.1203/01.pdr.0000233085.72522.04
    43 https://doi.org/10.1002/1097-4598(200102)24:2<284::aid-mus140>3.0.co;2-u
    44 https://doi.org/10.1002/1522-2586(200006)11:6<596::aid-jmri4>3.0.co;2-p
    45 https://doi.org/10.1002/acn3.189
    46 https://doi.org/10.1002/ajmg.a.32561
    47 https://doi.org/10.1002/ajmg.c.30089
    48 https://doi.org/10.1002/humu.20373
    49 https://doi.org/10.1002/humu.22242
    50 https://doi.org/10.1002/humu.23013
    51 https://doi.org/10.1002/lt.20744
    52 https://doi.org/10.1007/s10545-015-9894-9
    53 https://doi.org/10.1016/j.ajhg.2014.12.013
    54 https://doi.org/10.1016/j.ajo.2008.12.024
    55 https://doi.org/10.1016/j.clinbiochem.2008.10.006
    56 https://doi.org/10.1016/j.jpeds.2006.11.043
    57 https://doi.org/10.1016/j.jpeds.2009.07.002
    58 https://doi.org/10.1016/j.jpeds.2011.06.033
    59 https://doi.org/10.1016/j.jpeds.2015.01.051
    60 https://doi.org/10.1016/j.jpeds.2015.08.022
    61 https://doi.org/10.1016/j.ymgme.2004.01.016
    62 https://doi.org/10.1016/j.ymgme.2005.11.016
    63 https://doi.org/10.1016/j.ymgme.2006.03.009
    64 https://doi.org/10.1016/j.ymgme.2007.06.001
    65 https://doi.org/10.1016/j.ymgme.2007.09.002
    66 https://doi.org/10.1016/j.ymgme.2009.12.007
    67 https://doi.org/10.1016/j.ymgme.2013.05.001
    68 https://doi.org/10.1016/s0022-3476(89)80071-x
    69 https://doi.org/10.1016/s0022-3476(96)70081-1
    70 https://doi.org/10.1016/s0022-3476(96)70162-2
    71 https://doi.org/10.1016/s0969-2126(00)00105-2
    72 https://doi.org/10.1016/s1096-7192(02)00197-x
    73 https://doi.org/10.1056/nejmoa025225
    74 https://doi.org/10.1074/jbc.m109.050674
    75 https://doi.org/10.1086/426318
    76 https://doi.org/10.1093/brain/awu216
    77 https://doi.org/10.1111/ajt.13027
    78 https://doi.org/10.1111/j.1399-3046.2006.00569.x
    79 https://doi.org/10.1111/j.1399-3046.2006.00585.x
    80 https://doi.org/10.1111/j.1399-3046.2008.01029.x
    81 https://doi.org/10.1111/j.1399-3046.2011.01607.x
    82 https://doi.org/10.1111/j.1525-1470.2007.00505.x
    83 https://doi.org/10.1111/j.1600-6143.2005.01209.x
    84 https://doi.org/10.1126/science.1224631
    85 https://doi.org/10.1136/jmedgenet-2011-100230
    86 https://doi.org/10.1159/000255168
    87 https://doi.org/10.1177/0883073813508812
    88 https://doi.org/10.1542/peds.109.6.999
    89 https://doi.org/10.1542/peds.111.6.1399
    90 https://doi.org/10.1542/peds.2015-0175
    91 schema:datePublished 2016
    92 schema:datePublishedReg 2016-01-01
    93 schema:description The three essential branched-chain amino acids (BCAAs), leucine , isoleucine and valine , are initially catabolised by a common pathway (◘ Fig. 18.1). The first reaction, which occurs primarily in muscle, involves reversible transamination to 2-oxo- (or keto) acids and is followed by oxidative decarboxylation to coenzyme A (CoA) derivatives by branched-chain oxo- (or keto) acid dehydrogenase (BCKD).
    94 schema:editor N3fcbe26611404f12a7d65e2215a27958
    95 schema:genre chapter
    96 schema:inLanguage en
    97 schema:isAccessibleForFree false
    98 schema:isPartOf Ne81471013aff41c3974bf9e9585ca0db
    99 schema:name Branched-chain Organic Acidurias /Acidaemias
    100 schema:pagination 277-294
    101 schema:productId N049e1810e8bd4853a3fb3d6104c1d771
    102 N95fea9c0f7a7446192d1065f00a0549f
    103 Ndee909901a934302b75d3c16db9d3f66
    104 schema:publisher Ne130461ea0594e60ba8ea71c821d56e7
    105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052234797
    106 https://doi.org/10.1007/978-3-662-49771-5_18
    107 schema:sdDatePublished 2019-04-15T23:42
    108 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    109 schema:sdPublisher N3447bd47890e480b90bd1c7936a11f0f
    110 schema:url http://link.springer.com/10.1007/978-3-662-49771-5_18
    111 sgo:license sg:explorer/license/
    112 sgo:sdDataset chapters
    113 rdf:type schema:Chapter
    114 N049e1810e8bd4853a3fb3d6104c1d771 schema:name doi
    115 schema:value 10.1007/978-3-662-49771-5_18
    116 rdf:type schema:PropertyValue
    117 N1833970c53a34338858552acaa56530c schema:familyName Baumgartner
    118 schema:givenName Matthias R.
    119 rdf:type schema:Person
    120 N3447bd47890e480b90bd1c7936a11f0f schema:name Springer Nature - SN SciGraph project
    121 rdf:type schema:Organization
    122 N3b4eda26bd0242f3851df05134c46870 schema:familyName Saudubray
    123 schema:givenName Jean-Marie
    124 rdf:type schema:Person
    125 N3fcbe26611404f12a7d65e2215a27958 rdf:first N3b4eda26bd0242f3851df05134c46870
    126 rdf:rest Na6bf551052f54469a2529a47651206d9
    127 N500201045f1948d2812be607b661b4fd rdf:first sg:person.0747024472.82
    128 rdf:rest rdf:nil
    129 N7655d528cf944536bcacdccd012b3d70 rdf:first sg:person.01036301407.37
    130 rdf:rest N8c585fecd31b47b9acaf662528e5dd00
    131 N7d414709fec34bb69335edf449763d22 schema:name Division of Metabolism, Bambino Gesù Children’s Hospital
    132 rdf:type schema:Organization
    133 N7fb4e9fa1c2c4f4f9be141246ed1b23d schema:name Service de Neurologie et Maladies Métaboliques, Hôpital Robert Debré
    134 rdf:type schema:Organization
    135 N8c585fecd31b47b9acaf662528e5dd00 rdf:first sg:person.0724754007.46
    136 rdf:rest N500201045f1948d2812be607b661b4fd
    137 N95fea9c0f7a7446192d1065f00a0549f schema:name readcube_id
    138 schema:value f8cfb4fbc61425dfefd4496eb236f39711eddc7f2db94a79c33804cf008ac325
    139 rdf:type schema:PropertyValue
    140 Na5d67754fa994d68a8e8566ce998688b rdf:first Nc5e4b65cdde84a68837157d9a55e06e4
    141 rdf:rest rdf:nil
    142 Na6bf551052f54469a2529a47651206d9 rdf:first N1833970c53a34338858552acaa56530c
    143 rdf:rest Na5d67754fa994d68a8e8566ce998688b
    144 Nc5e4b65cdde84a68837157d9a55e06e4 schema:familyName Walter
    145 schema:givenName John
    146 rdf:type schema:Person
    147 Ndee909901a934302b75d3c16db9d3f66 schema:name dimensions_id
    148 schema:value pub.1052234797
    149 rdf:type schema:PropertyValue
    150 Ne130461ea0594e60ba8ea71c821d56e7 schema:location Berlin, Heidelberg
    151 schema:name Springer Berlin Heidelberg
    152 rdf:type schema:Organisation
    153 Ne81471013aff41c3974bf9e9585ca0db schema:isbn 978-3-662-49769-2
    154 978-3-662-49771-5
    155 schema:name Inborn Metabolic Diseases
    156 rdf:type schema:Book
    157 Nefd4df0846e64aceaa3cc5ffbf0fb38d schema:name Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Débre
    158 rdf:type schema:Organization
    159 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    160 schema:name Biological Sciences
    161 rdf:type schema:DefinedTerm
    162 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
    163 schema:name Biochemistry and Cell Biology
    164 rdf:type schema:DefinedTerm
    165 sg:person.01036301407.37 schema:affiliation Nefd4df0846e64aceaa3cc5ffbf0fb38d
    166 schema:familyName Schiff
    167 schema:givenName Manuel
    168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036301407.37
    169 rdf:type schema:Person
    170 sg:person.0724754007.46 schema:affiliation N7fb4e9fa1c2c4f4f9be141246ed1b23d
    171 schema:familyName de Baulny
    172 schema:givenName Hélène Ogier
    173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46
    174 rdf:type schema:Person
    175 sg:person.0747024472.82 schema:affiliation N7d414709fec34bb69335edf449763d22
    176 schema:familyName Dionisi-Vici
    177 schema:givenName Carlo
    178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747024472.82
    179 rdf:type schema:Person
    180 sg:pub.10.1007/8904_2011_66 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039801937
    181 https://doi.org/10.1007/8904_2011_66
    182 rdf:type schema:CreativeWork
    183 sg:pub.10.1007/8904_2014_393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034383823
    184 https://doi.org/10.1007/8904_2014_393
    185 rdf:type schema:CreativeWork
    186 sg:pub.10.1007/8904_2014_401 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024504794
    187 https://doi.org/10.1007/8904_2014_401
    188 rdf:type schema:CreativeWork
    189 sg:pub.10.1007/bf00710054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013275171
    190 https://doi.org/10.1007/bf00710054
    191 rdf:type schema:CreativeWork
    192 sg:pub.10.1007/bf00711749 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040816267
    193 https://doi.org/10.1007/bf00711749
    194 rdf:type schema:CreativeWork
    195 sg:pub.10.1007/bf00861581 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037201413
    196 https://doi.org/10.1007/bf00861581
    197 rdf:type schema:CreativeWork
    198 sg:pub.10.1007/bf02072492 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024156671
    199 https://doi.org/10.1007/bf02072492
    200 rdf:type schema:CreativeWork
    201 sg:pub.10.1007/pl00014275 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000372223
    202 https://doi.org/10.1007/pl00014275
    203 rdf:type schema:CreativeWork
    204 sg:pub.10.1007/s00431-010-1362-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043975156
    205 https://doi.org/10.1007/s00431-010-1362-9
    206 rdf:type schema:CreativeWork
    207 sg:pub.10.1007/s00439-002-0761-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1053552461
    208 https://doi.org/10.1007/s00439-002-0761-z
    209 rdf:type schema:CreativeWork
    210 sg:pub.10.1007/s00467-001-0801-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001188454
    211 https://doi.org/10.1007/s00467-001-0801-2
    212 rdf:type schema:CreativeWork
    213 sg:pub.10.1007/s004670100702 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014867763
    214 https://doi.org/10.1007/s004670100702
    215 rdf:type schema:CreativeWork
    216 sg:pub.10.1007/s10545-005-7056-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048516480
    217 https://doi.org/10.1007/s10545-005-7056-1
    218 rdf:type schema:CreativeWork
    219 sg:pub.10.1007/s10545-006-0278-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1032422161
    220 https://doi.org/10.1007/s10545-006-0278-z
    221 rdf:type schema:CreativeWork
    222 sg:pub.10.1007/s10545-006-0351-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009413725
    223 https://doi.org/10.1007/s10545-006-0351-7
    224 rdf:type schema:CreativeWork
    225 sg:pub.10.1007/s10545-006-0514-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010676464
    226 https://doi.org/10.1007/s10545-006-0514-6
    227 rdf:type schema:CreativeWork
    228 sg:pub.10.1007/s10545-007-0571-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020562618
    229 https://doi.org/10.1007/s10545-007-0571-5
    230 rdf:type schema:CreativeWork
    231 sg:pub.10.1007/s10545-009-1189-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023555604
    232 https://doi.org/10.1007/s10545-009-1189-6
    233 rdf:type schema:CreativeWork
    234 sg:pub.10.1007/s10545-010-9137-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1052502119
    235 https://doi.org/10.1007/s10545-010-9137-z
    236 rdf:type schema:CreativeWork
    237 sg:pub.10.1007/s10545-011-9381-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035709297
    238 https://doi.org/10.1007/s10545-011-9381-x
    239 rdf:type schema:CreativeWork
    240 sg:pub.10.1007/s10545-012-9570-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001632498
    241 https://doi.org/10.1007/s10545-012-9570-2
    242 rdf:type schema:CreativeWork
    243 sg:pub.10.1007/s10545-012-9579-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040977340
    244 https://doi.org/10.1007/s10545-012-9579-6
    245 rdf:type schema:CreativeWork
    246 sg:pub.10.1007/s10545-014-9705-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009257492
    247 https://doi.org/10.1007/s10545-014-9705-8
    248 rdf:type schema:CreativeWork
    249 sg:pub.10.1007/s10545-014-9802-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049133129
    250 https://doi.org/10.1007/s10545-014-9802-8
    251 rdf:type schema:CreativeWork
    252 sg:pub.10.1007/s10545-015-9839-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034689676
    253 https://doi.org/10.1007/s10545-015-9839-3
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1007/s10545-015-9894-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007676568
    256 https://doi.org/10.1007/s10545-015-9894-9
    257 rdf:type schema:CreativeWork
    258 sg:pub.10.1007/s10545-015-9906-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049822581
    259 https://doi.org/10.1007/s10545-015-9906-9
    260 rdf:type schema:CreativeWork
    261 sg:pub.10.1023/a:1005616315087 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046744903
    262 https://doi.org/10.1023/a:1005616315087
    263 rdf:type schema:CreativeWork
    264 sg:pub.10.1038/gim.2014.157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003953419
    265 https://doi.org/10.1038/gim.2014.157
    266 rdf:type schema:CreativeWork
    267 sg:pub.10.1038/jhg.2014.79 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015383107
    268 https://doi.org/10.1038/jhg.2014.79
    269 rdf:type schema:CreativeWork
    270 sg:pub.10.1038/ng.908 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023061171
    271 https://doi.org/10.1038/ng.908
    272 rdf:type schema:CreativeWork
    273 sg:pub.10.1097/gim.0b013e31802f78d6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028176545
    274 https://doi.org/10.1097/gim.0b013e31802f78d6
    275 rdf:type schema:CreativeWork
    276 sg:pub.10.1186/1750-1172-7-31 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026835876
    277 https://doi.org/10.1186/1750-1172-7-31
    278 rdf:type schema:CreativeWork
    279 sg:pub.10.1186/1750-1172-8-148 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050135217
    280 https://doi.org/10.1186/1750-1172-8-148
    281 rdf:type schema:CreativeWork
    282 sg:pub.10.1186/1750-1172-8-188 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009603281
    283 https://doi.org/10.1186/1750-1172-8-188
    284 rdf:type schema:CreativeWork
    285 sg:pub.10.1186/1750-1172-8-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032993058
    286 https://doi.org/10.1186/1750-1172-8-6
    287 rdf:type schema:CreativeWork
    288 sg:pub.10.1186/s13023-014-0130-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047327138
    289 https://doi.org/10.1186/s13023-014-0130-8
    290 rdf:type schema:CreativeWork
    291 sg:pub.10.1203/01.pdr.0000190571.60385.34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001873909
    292 https://doi.org/10.1203/01.pdr.0000190571.60385.34
    293 rdf:type schema:CreativeWork
    294 sg:pub.10.1203/01.pdr.0000233085.72522.04 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025136954
    295 https://doi.org/10.1203/01.pdr.0000233085.72522.04
    296 rdf:type schema:CreativeWork
    297 https://doi.org/10.1002/1097-4598(200102)24:2<284::aid-mus140>3.0.co;2-u schema:sameAs https://app.dimensions.ai/details/publication/pub.1024237665
    298 rdf:type schema:CreativeWork
    299 https://doi.org/10.1002/1522-2586(200006)11:6<596::aid-jmri4>3.0.co;2-p schema:sameAs https://app.dimensions.ai/details/publication/pub.1045994678
    300 rdf:type schema:CreativeWork
    301 https://doi.org/10.1002/acn3.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019715295
    302 rdf:type schema:CreativeWork
    303 https://doi.org/10.1002/ajmg.a.32561 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007047581
    304 rdf:type schema:CreativeWork
    305 https://doi.org/10.1002/ajmg.c.30089 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047735259
    306 rdf:type schema:CreativeWork
    307 https://doi.org/10.1002/humu.20373 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005006187
    308 rdf:type schema:CreativeWork
    309 https://doi.org/10.1002/humu.22242 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025393908
    310 rdf:type schema:CreativeWork
    311 https://doi.org/10.1002/humu.23013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007372048
    312 rdf:type schema:CreativeWork
    313 https://doi.org/10.1002/lt.20744 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044436120
    314 rdf:type schema:CreativeWork
    315 https://doi.org/10.1007/s10545-015-9894-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007676568
    316 rdf:type schema:CreativeWork
    317 https://doi.org/10.1016/j.ajhg.2014.12.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001095464
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1016/j.ajo.2008.12.024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010300088
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1016/j.clinbiochem.2008.10.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040260095
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1016/j.jpeds.2006.11.043 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012534680
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1016/j.jpeds.2009.07.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015132800
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1016/j.jpeds.2011.06.033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035091961
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1016/j.jpeds.2015.01.051 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035799503
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1016/j.jpeds.2015.08.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007393885
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1016/j.ymgme.2004.01.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042547063
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1016/j.ymgme.2005.11.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047301156
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1016/j.ymgme.2006.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000512147
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1016/j.ymgme.2007.06.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030344114
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1016/j.ymgme.2007.09.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026402690
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1016/j.ymgme.2009.12.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009621336
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1016/j.ymgme.2013.05.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010542709
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1016/s0022-3476(89)80071-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1049850448
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1016/s0022-3476(96)70081-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024663761
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1016/s0022-3476(96)70162-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015058611
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1016/s0969-2126(00)00105-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000270077
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1016/s1096-7192(02)00197-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1010391981
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1056/nejmoa025225 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008064361
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1074/jbc.m109.050674 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044646109
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1086/426318 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058714655
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1093/brain/awu216 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019621210
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1111/ajt.13027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000761360
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1111/j.1399-3046.2006.00569.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1003091735
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1111/j.1399-3046.2006.00585.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1000525713
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1111/j.1399-3046.2008.01029.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021077957
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1111/j.1399-3046.2011.01607.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1012656382
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1111/j.1525-1470.2007.00505.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1001970342
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1111/j.1600-6143.2005.01209.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1018695303
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1126/science.1224631 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002862415
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1136/jmedgenet-2011-100230 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011812779
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1159/000255168 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014583165
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1177/0883073813508812 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053825053
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1542/peds.109.6.999 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067821585
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1542/peds.111.6.1399 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067822097
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1542/peds.2015-0175 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051873629
    392 rdf:type schema:CreativeWork
     




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


    ...