Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-09-03

AUTHORS

Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A. Morris, Burkhardt Seifert, D. Sean Froese, Matthias R. Baumgartner, Carlo Dionisi-Vici, the EHOD consortium, C. Alcalde Martin, M. Baethmann, D. Ballhausen, J. Blasco-Alonso, N. Boy, M. Bueno, R. Burgos Peláez, R. Cerone, B. Chabrol, K. A. Chapman, M. L. Couce, E. Crushell, J. Dalmau Serra, L. Diogo, C. Ficicioglu, M. C. García Jimenez, M. T. García Silva, A. M. Gaspar, M. Gautschi, D. González-Lamuño, S. Gouveia, S. Grünewald, C. Hendriksz, M. C. H. Janssen, P. Jesina, J. Koch, V. Konstantopoulou, C. Lavigne, A. M. Lund, E. G. Martins, S. Meavilla Olivas, K. Mention, F. Mochel, H. Mundy, E. Murphy, S. Paquay, C. Pedrón-Giner, M. A. Ruiz Gómez, S. Santra, M. Schiff, I. V. Schwartz, S. Scholl-Bürgi, A. Servais, A. Skouma, C. Tran, I. Vives Piñera, J. Walter, J. Weisfeld-Adams

ABSTRACT

AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design. More... »

PAGES

1-19

References to SciGraph publications

  • 2017. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism in JIMD REPORTS, VOLUME 37
  • 2017-08. Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience in GENETICS IN MEDICINE
  • 2011-02. Isolated remethylation disorders: do our treatments benefit patients? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-05. Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity in PEDIATRIC NEPHROLOGY
  • 2015-11. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-09. Clinical presentation and outcome in a series of 88 patients with the cblC defect in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016-04. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency in GENETICS IN MEDICINE
  • 2017-12. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-01. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-08. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015. A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect in JIMD REPORTS, VOLUME 29
  • 2017-01. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-01. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type in NATURE GENETICS
  • 2009-12. Hydroxocobalamin dose escalation improves metabolic control in cblC in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-02. Cobalamin C defect: natural history, pathophysiology, and treatment in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-01. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-07. Update and new concepts in vitamin responsive disorders of folate transport and metabolism in JOURNAL OF INHERITED METABOLIC DISEASE
  • Journal

    TITLE

    Journal of Inherited Metabolic Disease

    ISSUE

    N/A

    VOLUME

    N/A

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10545-018-0238-4

    DOI

    http://dx.doi.org/10.1007/s10545-018-0238-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1106526024

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30178268


    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"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Zurich", 
              "id": "https://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Division of Metabolism and Children\u2019s Research Center, University Children\u2019s Hospital, Z\u00fcrich, Switzerland", 
                "radiz\u2014Rare Disease Initiative Z\u00fcrich, University Z\u00fcrich, Z\u00fcrich, Switzerland", 
                "Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Huemer", 
            "givenName": "Martina", 
            "id": "sg:person.01333317666.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333317666.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Division of Metabolism, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Diodato", 
            "givenName": "Daria", 
            "id": "sg:person.01214646041.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214646041.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Division of Metabolism, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Martinelli", 
            "givenName": "Diego", 
            "id": "sg:person.01305075114.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305075114.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Division of Metabolism, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Olivieri", 
            "givenName": "Giorgia", 
            "id": "sg:person.01274772253.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274772253.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "VU University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.16872.3a", 
              "name": [
                "Department of Internal Medicine, VU Medical Center, Amsterdam, Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Blom", 
            "givenName": "Henk", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gleich", 
            "givenName": "Florian", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "K\u00f6lker", 
            "givenName": "Stefan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "General University hospital", 
              "id": "https://www.grid.ac/institutes/grid.411798.2", 
              "name": [
                "Department of Pediatrics and Adolescent Medicine, Charles University\u2014First Faculty of Medicine and General University Hospital, Prague, Czech Republic"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ko\u017eich", 
            "givenName": "Viktor", 
            "id": "sg:person.01323702514.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01323702514.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Health Service", 
              "id": "https://www.grid.ac/institutes/grid.451052.7", 
              "name": [
                "Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Morris", 
            "givenName": "Andrew A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Zurich", 
              "id": "https://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Department of Biostatistics at Epidemiology, Biostatistics and Prevention Institute, University Z\u00fcrich, Z\u00fcrich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Seifert", 
            "givenName": "Burkhardt", 
            "id": "sg:person.01156244631.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156244631.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Zurich", 
              "id": "https://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Division of Metabolism and Children\u2019s Research Center, University Children\u2019s Hospital, Z\u00fcrich, Switzerland", 
                "radiz\u2014Rare Disease Initiative Z\u00fcrich, University Z\u00fcrich, Z\u00fcrich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Froese", 
            "givenName": "D. Sean", 
            "id": "sg:person.0675072774.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675072774.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Zurich", 
              "id": "https://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Division of Metabolism and Children\u2019s Research Center, University Children\u2019s Hospital, Z\u00fcrich, Switzerland", 
                "radiz\u2014Rare Disease Initiative Z\u00fcrich, University Z\u00fcrich, Z\u00fcrich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baumgartner", 
            "givenName": "Matthias R.", 
            "id": "sg:person.01301761047.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01301761047.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Division of Metabolism, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"
              ], 
              "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"
          }, 
          {
            "familyName": "the EHOD consortium", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario R\u00edo Hortega", 
              "id": "https://www.grid.ac/institutes/grid.411280.e", 
              "name": [
                "Hospital Universitario R\u00edo Hortega, Valladolid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Alcalde Martin", 
            "givenName": "C.", 
            "id": "sg:person.015442762727.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015442762727.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Klinikum Dritter Orden M\u00fcnchen-Nymphenburg, Munich, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baethmann", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Lausanne", 
              "id": "https://www.grid.ac/institutes/grid.8515.9", 
              "name": [
                "Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ballhausen", 
            "givenName": "D.", 
            "id": "sg:person.01232756146.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232756146.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Regional Universitario de M\u00e1laga", 
              "id": "https://www.grid.ac/institutes/grid.411457.2", 
              "name": [
                "Secci\u00f3n de Gastroenterolog\u00eda y Nutrici\u00f3n Pedi\u00e1trica, Hospital Regional de M\u00e1laga, M\u00e1laga, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Blasco-Alonso", 
            "givenName": "J.", 
            "id": "sg:person.01366101350.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366101350.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boy", 
            "givenName": "N.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Virgen del Roc\u00edo", 
              "id": "https://www.grid.ac/institutes/grid.411109.c", 
              "name": [
                "Hospital Universitario Virgen del Roc\u00edo, Sevilla, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bueno", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari Vall d'Hebron", 
              "id": "https://www.grid.ac/institutes/grid.411083.f", 
              "name": [
                "Nutritional Support Unit, University Hospital Vall d\u2019Hebron, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Burgos Pel\u00e1ez", 
            "givenName": "R.", 
            "id": "sg:person.012416531431.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012416531431.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Istituto Giannina Gaslini", 
              "id": "https://www.grid.ac/institutes/grid.419504.d", 
              "name": [
                "University Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cerone", 
            "givenName": "R.", 
            "id": "sg:person.01270370623.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270370623.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, CHU La Timone Enfants, Marseille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chabrol", 
            "givenName": "B.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children\u2019s National Health System", 
              "id": "https://www.grid.ac/institutes/grid.239560.b", 
              "name": [
                "Children\u2019s National Rare Disease Institute, Washington, DC, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chapman", 
            "givenName": "K. A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Complejo Hospitalario Universitario de Santiago", 
              "id": "https://www.grid.ac/institutes/grid.411048.8", 
              "name": [
                "Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Cl\u00ednico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Couce", 
            "givenName": "M. L.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Temple Street Children's University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412459.f", 
              "name": [
                "National Centre for Inherited Metabolic Disorders, Temple Street Children\u2019s University Hospital, Dublin, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Crushell", 
            "givenName": "E.", 
            "id": "sg:person.01262175577.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262175577.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari i Polit\u00e8cnic La Fe", 
              "id": "https://www.grid.ac/institutes/grid.84393.35", 
              "name": [
                "Unidad de Nutrici\u00f3n y Metabolopat\u00edas, Hospital Universitario La Fe, Valencia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dalmau Serra", 
            "givenName": "J.", 
            "id": "sg:person.014524553725.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014524553725.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospitais da Universidade de Coimbra", 
              "id": "https://www.grid.ac/institutes/grid.28911.33", 
              "name": [
                "Centro Hospitalar e Universit\u00e1rio de Coimbra, MetaERN, Coimbra, Portugal"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Diogo", 
            "givenName": "L.", 
            "id": "sg:person.0761713725.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761713725.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Human Genetics, The Children\u2019s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ficicioglu", 
            "givenName": "C.", 
            "id": "sg:person.01026635171.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026635171.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Miguel Servet", 
              "id": "https://www.grid.ac/institutes/grid.411106.3", 
              "name": [
                "Hospital Infantil Miguel Servet, Zaragoza, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Garc\u00eda Jimenez", 
            "givenName": "M. C.", 
            "id": "sg:person.013145301100.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013145301100.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario 12 De Octubre", 
              "id": "https://www.grid.ac/institutes/grid.144756.5", 
              "name": [
                "Universitary Hospital 12 Octubre, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Garc\u00eda Silva", 
            "givenName": "M. T.", 
            "id": "sg:person.011054344355.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011054344355.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Centro Academico de Medicina de Lisboa, Lisbon, Portugal"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gaspar", 
            "givenName": "A. M.", 
            "id": "sg:person.01144255525.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144255525.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Bern", 
              "id": "https://www.grid.ac/institutes/grid.411656.1", 
              "name": [
                "Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and Metabolism, University Children\u2019s Hospital and University Institute of Clinical Chemistry, Inselspital, Berne, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gautschi", 
            "givenName": "M.", 
            "id": "sg:person.01034472772.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01034472772.20"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Pediatrics, University Hospital Marqu\u00e9s de Valdecilla, Universidad de Cantabria, Santander, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gonz\u00e1lez-Lamu\u00f1o", 
            "givenName": "D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Complejo Hospitalario Universitario de Santiago", 
              "id": "https://www.grid.ac/institutes/grid.411048.8", 
              "name": [
                "Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Cl\u00ednico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gouveia", 
            "givenName": "S.", 
            "id": "sg:person.016552767055.68", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016552767055.68"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University College London", 
              "id": "https://www.grid.ac/institutes/grid.83440.3b", 
              "name": [
                "Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gr\u00fcnewald", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Salford Royal NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.412346.6", 
              "name": [
                "Salford Royal NHS Foundation Trust, Salford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hendriksz", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Radboud University Nijmegen Medical Centre", 
              "id": "https://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Janssen", 
            "givenName": "M. C. H.", 
            "id": "sg:person.014252620102.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014252620102.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "General University hospital", 
              "id": "https://www.grid.ac/institutes/grid.411798.2", 
              "name": [
                "Department of Pediatrics and Adolescent Medicine, Charles University\u2014First Faculty of Medicine and General University Hospital, Prague, Czech Republic"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jesina", 
            "givenName": "P.", 
            "id": "sg:person.01051323167.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051323167.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Paracelsus Private Medical University of Salzburg", 
              "id": "https://www.grid.ac/institutes/grid.21604.31", 
              "name": [
                "Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Koch", 
            "givenName": "J.", 
            "id": "sg:person.01153732072.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153732072.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical University of Vienna", 
              "id": "https://www.grid.ac/institutes/grid.22937.3d", 
              "name": [
                "Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Konstantopoulou", 
            "givenName": "V.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Angers", 
              "id": "https://www.grid.ac/institutes/grid.411147.6", 
              "name": [
                "M\u00e9decine Interne et Maladies Vasculaires, Centre Hospitalier Universitaire Angers, Angers, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lavigne", 
            "givenName": "C.", 
            "id": "sg:person.01341102651.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341102651.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lund", 
            "givenName": "A. M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centro Hospitalar do Porto", 
              "id": "https://www.grid.ac/institutes/grid.418340.a", 
              "name": [
                "Reference Center for Inherited Metabolic Diseases, Centro Hospitalar do Porto, Porto, Portugal"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Martins", 
            "givenName": "E. G.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Gastroenterology, Hepatology and Nutrition, Sant Joan de D\u00e9u Hospital, Barcelona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Meavilla Olivas", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "H\u00f4pital Jeanne de Flandre, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mention", 
            "givenName": "K.", 
            "id": "sg:person.01017677042.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017677042.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Reference Center for Adult Neurometabolic Diseases, University Pierre and Marie Curie, La Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mochel", 
            "givenName": "F.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Evelina London Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.483570.d", 
              "name": [
                "Evelina London Children\u2019s Hospital, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mundy", 
            "givenName": "H.", 
            "id": "sg:person.01171403055.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171403055.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Hospital for Neurology and Neurosurgery", 
              "id": "https://www.grid.ac/institutes/grid.436283.8", 
              "name": [
                "Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Murphy", 
            "givenName": "E.", 
            "id": "sg:person.0773607352.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773607352.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cliniques Universitaires Saint-Luc", 
              "id": "https://www.grid.ac/institutes/grid.48769.34", 
              "name": [
                "Universit\u00e9 Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Paquay", 
            "givenName": "S.", 
            "id": "sg:person.015445355001.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015445355001.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Infantil Universitario Ni\u00f1o Jes\u00fas", 
              "id": "https://www.grid.ac/institutes/grid.411107.2", 
              "name": [
                "Division of Gastroenterology and Nutrition, University Children\u2019s Hospital Ni\u00f1o Jes\u00fas, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pedr\u00f3n-Giner", 
            "givenName": "C.", 
            "id": "sg:person.01133100171.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133100171.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Son Espases", 
              "id": "https://www.grid.ac/institutes/grid.411164.7", 
              "name": [
                "Metabolic Neuropediatric Unit, University Hospital Son Espases, Palma de Mallorca, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ruiz G\u00f3mez", 
            "givenName": "M. A.", 
            "id": "sg:person.014257250036.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014257250036.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Santra", 
            "givenName": "S.", 
            "id": "sg:person.0726243735.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726243735.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Robert Debr\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.413235.2", 
              "name": [
                "Reference Center for Inherited Metabolic Diseases, AP-HP, Robert Debr\u00e9 Hospital, University Paris Diderot-Sorbonne Paris Cit\u00e9 and INSERM U1141, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schiff", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Federal University of Rio Grande do Sul", 
              "id": "https://www.grid.ac/institutes/grid.8532.c", 
              "name": [
                "Hospital de Cl\u00ednicas de Porto Alegre and Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schwartz", 
            "givenName": "I. V.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Innsbruck Medical University", 
              "id": "https://www.grid.ac/institutes/grid.5361.1", 
              "name": [
                "Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Scholl-B\u00fcrgi", 
            "givenName": "S.", 
            "id": "sg:person.01130311430.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130311430.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP-HP, University Paris Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Servais", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital Agia Sophia", 
              "id": "https://www.grid.ac/institutes/grid.413408.a", 
              "name": [
                "Agia Sofia Children\u2019s Hospital 1st Department of Pediatrics, University of Athens Thivon & Levadias, Athens, Greece"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Skouma", 
            "givenName": "A.", 
            "id": "sg:person.07506623675.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07506623675.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Lausanne", 
              "id": "https://www.grid.ac/institutes/grid.8515.9", 
              "name": [
                "Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tran", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Virgen de la Arrixaca", 
              "id": "https://www.grid.ac/institutes/grid.411372.2", 
              "name": [
                "Hospital Universitario Virgen de la Arrixaca, El Palmar, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vives Pi\u00f1era", 
            "givenName": "I.", 
            "id": "sg:person.01043213015.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043213015.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bradford Royal Infirmary", 
              "id": "https://www.grid.ac/institutes/grid.418447.a", 
              "name": [
                "Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK", 
                "Bradford Royal Infirmary, Bradford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Walter", 
            "givenName": "J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Colorado Anschutz Medical Campus", 
              "id": "https://www.grid.ac/institutes/grid.430503.1", 
              "name": [
                "Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Weisfeld-Adams", 
            "givenName": "J.", 
            "id": "sg:person.01021427105.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021427105.12"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1002/humu.21001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002534192"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-010-9161-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002645323", 
              "https://doi.org/10.1007/s10545-010-9161-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1080/13816810500481758", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004831018"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.21107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006247332"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.21107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006247332"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.1365-2125.2003.01717.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006619321"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3389/fmolb.2016.00027", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007203249"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9991-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008836798", 
              "https://doi.org/10.1007/s10545-016-9991-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9991-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008836798", 
              "https://doi.org/10.1007/s10545-016-9991-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9991-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008836798", 
              "https://doi.org/10.1007/s10545-016-9991-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-009-1257-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010901107", 
              "https://doi.org/10.1007/s10545-009-1257-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-009-1257-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010901107", 
              "https://doi.org/10.1007/s10545-009-1257-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ophtha.2013.08.034", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011340505"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.2012-2581", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013386728"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cca.2015.09.012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015708626"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2015.107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017129027", 
              "https://doi.org/10.1038/gim.2015.107"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9979-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017155631", 
              "https://doi.org/10.1007/s10545-016-9979-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9979-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017155631", 
              "https://doi.org/10.1007/s10545-016-9979-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-016-9979-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017155631", 
              "https://doi.org/10.1007/s10545-016-9979-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2015.01.012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017189407"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2013.05.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018910524"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2015_517", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020772723", 
              "https://doi.org/10.1007/8904_2015_517"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m407733200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023428391"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(12)60820-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025793568"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(88)80114-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033244309"
            ], 
            "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/s10545-011-9365-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035405873", 
              "https://doi.org/10.1007/s10545-011-9365-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1001/jamaneurol.2013.4915", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035416157"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/1471-0528.12281", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037793042"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-010-9120-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038394743", 
              "https://doi.org/10.1007/s10545-010-9120-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1683", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038556238", 
              "https://doi.org/10.1038/ng1683"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1683", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038556238", 
              "https://doi.org/10.1038/ng1683"
            ], 
            "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/10.1016/j.jaapos.2008.06.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040410307"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-014-9687-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041986342", 
              "https://doi.org/10.1007/s10545-014-9687-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3399-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042411322", 
              "https://doi.org/10.1007/s00467-016-3399-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3399-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042411322", 
              "https://doi.org/10.1007/s00467-016-3399-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1373/clinchem.2003.021634", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042536093"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-015-9830-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045377402", 
              "https://doi.org/10.1007/s10545-015-9830-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.31932", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045431881"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-011-9418-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046973287", 
              "https://doi.org/10.1007/s10545-011-9418-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1007/s10545-011-9418-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046973287"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/088307380001500808", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047106426"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/088307380001500808", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047106426"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.10499", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048726109"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2013.07.018", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049860052"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2007.11.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050406642"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22970", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051364999"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1005353530303", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051874523", 
              "https://doi.org/10.1023/a:1005353530303"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1055/s-2000-12947", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1057401929"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1055/s-2005-873057", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1057449858"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/0969141316641149", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1063907868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1177/0969141316641149", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1063907868"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074779965", 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-017-0579-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083403203", 
              "https://doi.org/10.1186/s13023-017-0579-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-017-0579-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083403203", 
              "https://doi.org/10.1186/s13023-017-0579-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2016.214", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083405365", 
              "https://doi.org/10.1038/gim.2016.214"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2017_11", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084495705", 
              "https://doi.org/10.1007/8904_2017_11"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/aos.13441", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085224004"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-09-03", 
        "datePublishedReg": "2018-09-03", 
        "description": "AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry.\nRESULTS: This review comprises 238 patients (cobalamin C defect n\u2009=\u2009161; methylenetetrahydrofolate reductase deficiency n\u2009=\u200950; cobalamin G defect n\u2009=\u200911; cobalamin E defect n\u2009=\u200910; cobalamin D defect n\u2009=\u20095; and cobalamin J defect n\u2009=\u20091) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30\u00a0days (range 1\u00a0day to 42\u00a0years) and the median age at diagnosis was 3.7\u00a0months (range 3\u00a0days to 56\u00a0years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15\u00a0days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities.\nCONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s10545-018-0238-4", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1090550", 
            "issn": [
              "0141-8955", 
              "1573-2665"
            ], 
            "name": "Journal of Inherited Metabolic Disease", 
            "type": "Periodical"
          }
        ], 
        "name": "Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry", 
        "pagination": "1-19", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "f4e5b330f4f7fc0d958f1a07a92e540395c61fb08071c96ef7a78f9f814a38d9"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30178268"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "7910918"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s10545-018-0238-4"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1106526024"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s10545-018-0238-4", 
          "https://app.dimensions.ai/details/publication/pub.1106526024"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T22:48", 
        "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_8690_00000605.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1007%2Fs10545-018-0238-4"
      }
    ]
     

    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/s10545-018-0238-4'

    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/s10545-018-0238-4'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10545-018-0238-4'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-018-0238-4'


     

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

    771 TRIPLES      21 PREDICATES      74 URIs      18 LITERALS      7 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s10545-018-0238-4 schema:about anzsrc-for:11
    2 anzsrc-for:1103
    3 schema:author Ne9a0ce719a514b84b5cf9e9cb7ec7789
    4 schema:citation sg:pub.10.1007/8904_2015_517
    5 sg:pub.10.1007/8904_2017_11
    6 sg:pub.10.1007/s00467-016-3399-0
    7 sg:pub.10.1007/s10545-009-1257-y
    8 sg:pub.10.1007/s10545-010-9120-8
    9 sg:pub.10.1007/s10545-010-9161-z
    10 sg:pub.10.1007/s10545-011-9365-x
    11 sg:pub.10.1007/s10545-011-9418-1
    12 sg:pub.10.1007/s10545-014-9687-6
    13 sg:pub.10.1007/s10545-015-9830-z
    14 sg:pub.10.1007/s10545-015-9839-3
    15 sg:pub.10.1007/s10545-015-9840-x
    16 sg:pub.10.1007/s10545-016-9979-0
    17 sg:pub.10.1007/s10545-016-9991-4
    18 sg:pub.10.1023/a:1005353530303
    19 sg:pub.10.1038/gim.2015.107
    20 sg:pub.10.1038/gim.2016.214
    21 sg:pub.10.1038/ng1683
    22 sg:pub.10.1186/s13023-017-0579-3
    23 https://app.dimensions.ai/details/publication/pub.1074779965
    24 https://doi.org/10.1001/jamaneurol.2013.4915
    25 https://doi.org/10.1002/ajmg.10499
    26 https://doi.org/10.1002/ajmg.a.31932
    27 https://doi.org/10.1002/humu.21001
    28 https://doi.org/10.1002/humu.21107
    29 https://doi.org/10.1002/humu.22970
    30 https://doi.org/10.1007/s10545-011-9418-1
    31 https://doi.org/10.1016/j.cca.2015.09.012
    32 https://doi.org/10.1016/j.jaapos.2008.06.008
    33 https://doi.org/10.1016/j.ophtha.2013.08.034
    34 https://doi.org/10.1016/j.ymgme.2007.11.005
    35 https://doi.org/10.1016/j.ymgme.2013.05.007
    36 https://doi.org/10.1016/j.ymgme.2013.07.018
    37 https://doi.org/10.1016/j.ymgme.2015.01.012
    38 https://doi.org/10.1016/s0022-3476(88)80114-8
    39 https://doi.org/10.1016/s0140-6736(12)60820-4
    40 https://doi.org/10.1046/j.1365-2125.2003.01717.x
    41 https://doi.org/10.1055/s-2000-12947
    42 https://doi.org/10.1055/s-2005-873057
    43 https://doi.org/10.1074/jbc.m407733200
    44 https://doi.org/10.1080/13816810500481758
    45 https://doi.org/10.1111/1471-0528.12281
    46 https://doi.org/10.1111/aos.13441
    47 https://doi.org/10.1177/088307380001500808
    48 https://doi.org/10.1177/0969141316641149
    49 https://doi.org/10.1373/clinchem.2003.021634
    50 https://doi.org/10.1542/peds.2012-2581
    51 https://doi.org/10.3389/fmolb.2016.00027
    52 schema:datePublished 2018-09-03
    53 schema:datePublishedReg 2018-09-03
    54 schema:description AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.
    55 schema:genre research_article
    56 schema:inLanguage en
    57 schema:isAccessibleForFree false
    58 schema:isPartOf sg:journal.1090550
    59 schema:name Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
    60 schema:pagination 1-19
    61 schema:productId N264155e6d3894fb184297c899ca5daaf
    62 N33d6130670074bdf8b72a2abc187440d
    63 N48c31ac180254d57adf3e4eab6b76498
    64 N9958b162c93546588a482108c4fc673f
    65 Naf43ab996f334e2ba137921096584eab
    66 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106526024
    67 https://doi.org/10.1007/s10545-018-0238-4
    68 schema:sdDatePublished 2019-04-10T22:48
    69 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    70 schema:sdPublisher N761f5a7495174ec08e04de23285ac38f
    71 schema:url https://link.springer.com/10.1007%2Fs10545-018-0238-4
    72 sgo:license sg:explorer/license/
    73 sgo:sdDataset articles
    74 rdf:type schema:ScholarlyArticle
    75 N04bf472bae1c4315ab86ff2ab9af5c2c schema:familyName the EHOD consortium
    76 rdf:type schema:Person
    77 N0730abffbf7e4ea5b112bcb3eaf7a7ab rdf:first sg:person.014252620102.42
    78 rdf:rest N5d80d7a16ac84024845e62fd4d778726
    79 N0a30694ff1ab445992e2fd363e9cce44 rdf:first Nbcd5488d8da64aa2886bce4a9641580a
    80 rdf:rest Ndb6614de5d11482a806cd2e946cfe0d8
    81 N0ed702cfd50141ceaeda0c742dec9e72 rdf:first sg:person.01171403055.64
    82 rdf:rest Nf542c06d753a4169a7b6c8cb0b1e0e38
    83 N0f038661f6cb473c9f556dddeaf77b62 rdf:first Nf8318dac96694ea7926ef3c8dda9a004
    84 rdf:rest Nae0a63aa3cf84685aff3abc7ac7fd42d
    85 N120b228bed35495b96612b589125355c schema:affiliation Nfc4b67b0eafd44fc81946b9b7422a055
    86 schema:familyName Gleich
    87 schema:givenName Florian
    88 rdf:type schema:Person
    89 N12da6c41aa654bc8948461d9f1df1bcd schema:affiliation https://www.grid.ac/institutes/grid.451052.7
    90 schema:familyName Morris
    91 schema:givenName Andrew A.
    92 rdf:type schema:Person
    93 N1cfc03e735364a7fbcba3d073daecc4f rdf:first N12da6c41aa654bc8948461d9f1df1bcd
    94 rdf:rest Nb1150d1fa3ab4063991468317a6300f8
    95 N1fb384ab93364497974df76485e96263 rdf:first N6b09cb33eb1b4c34906eaf7df9e8b52e
    96 rdf:rest Ncc2f2a866f3d45c9a2dab65d428a6fdf
    97 N216de6058d1849d08145d7c69a90265a rdf:first N49955d7191994880864635f88fc74d2e
    98 rdf:rest N9c8814c5b9964e239944ffcf21615c48
    99 N264155e6d3894fb184297c899ca5daaf schema:name nlm_unique_id
    100 schema:value 7910918
    101 rdf:type schema:PropertyValue
    102 N28a07bae8c0c43a1854a94ad38a7c531 schema:name Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany
    103 rdf:type schema:Organization
    104 N2c9efb2eb7c24573b7a62e3c010ba3af schema:affiliation https://www.grid.ac/institutes/grid.412346.6
    105 schema:familyName Hendriksz
    106 schema:givenName C.
    107 rdf:type schema:Person
    108 N2f95f6a7f6734a80ba2776579be20af5 schema:affiliation https://www.grid.ac/institutes/grid.8515.9
    109 schema:familyName Tran
    110 schema:givenName C.
    111 rdf:type schema:Person
    112 N33d6130670074bdf8b72a2abc187440d schema:name readcube_id
    113 schema:value f4e5b330f4f7fc0d958f1a07a92e540395c61fb08071c96ef7a78f9f814a38d9
    114 rdf:type schema:PropertyValue
    115 N3f24f085548a4779b8e515d3eb8be706 rdf:first sg:person.01301761047.04
    116 rdf:rest N7fce46bd9a254618b131143dcec522f6
    117 N470c2f61b6484f858d6c4df8cf389bc5 schema:name Reference Center for Adult Neurometabolic Diseases, University Pierre and Marie Curie, La Pitié-Salpêtrière University Hospital, Paris, France
    118 rdf:type schema:Organization
    119 N47a99658fd334fd1b7fe321600ef012d rdf:first sg:person.015442762727.69
    120 rdf:rest Nd9194a39dd554656abc29109a2fea82b
    121 N48c31ac180254d57adf3e4eab6b76498 schema:name pubmed_id
    122 schema:value 30178268
    123 rdf:type schema:PropertyValue
    124 N49955d7191994880864635f88fc74d2e schema:affiliation N55fcf5665b65451ca1c4e4c6574ccac1
    125 schema:familyName Lund
    126 schema:givenName A. M.
    127 rdf:type schema:Person
    128 N4a323024ae2d41b58360491d63be7a6f schema:name Department of Pediatrics, University Hospital Marqués de Valdecilla, Universidad de Cantabria, Santander, Spain
    129 rdf:type schema:Organization
    130 N4a529b7effe942c28b29359673fcd054 rdf:first sg:person.014524553725.44
    131 rdf:rest N5b12f475cce84a749a08c8d27ad16c5f
    132 N501aec31872b48ed8509dc156e4befb7 rdf:first sg:person.01130311430.86
    133 rdf:rest Nd5a993015e7143248e3fcde11f53415e
    134 N513d206ab0d94152b58914f8d86c02e4 rdf:first sg:person.0675072774.16
    135 rdf:rest N3f24f085548a4779b8e515d3eb8be706
    136 N546298cebdf143a7a5631cca07a2c5b2 rdf:first Nb8939e15fa2b41fc9d90a182a6f8389d
    137 rdf:rest Ne8255bb5715a47f6a78d758036d37d5b
    138 N55fcf5665b65451ca1c4e4c6574ccac1 schema:name Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    139 rdf:type schema:Organization
    140 N5b12f475cce84a749a08c8d27ad16c5f rdf:first sg:person.0761713725.74
    141 rdf:rest N79a664736f054b908ce1772585fa4828
    142 N5cb4cfc05c0d42ea98a9631b8a7985e6 schema:name Klinikum Dritter Orden München-Nymphenburg, Munich, Germany
    143 rdf:type schema:Organization
    144 N5cbdc4890fb448c0870b41dca07dbac8 schema:affiliation https://www.grid.ac/institutes/grid.411109.c
    145 schema:familyName Bueno
    146 schema:givenName M.
    147 rdf:type schema:Person
    148 N5d80d7a16ac84024845e62fd4d778726 rdf:first sg:person.01051323167.56
    149 rdf:rest Ned0b9d0ab2134a7a8a29885e00c8c59d
    150 N5d931941f33a4a79a4e0d97d5935052b rdf:first Nd7852de94d1c43f1b53e66ff9a4cd06a
    151 rdf:rest N0ed702cfd50141ceaeda0c742dec9e72
    152 N6b09cb33eb1b4c34906eaf7df9e8b52e schema:affiliation https://www.grid.ac/institutes/grid.239560.b
    153 schema:familyName Chapman
    154 schema:givenName K. A.
    155 rdf:type schema:Person
    156 N6eb05c8ac53f45cdbf23d02394486258 rdf:first sg:person.014257250036.48
    157 rdf:rest N7098e2215b884ff6ba6834f054c16382
    158 N6f5217ace82a4f558f3aa8a8e7dbe3bb rdf:first Nfefa4685592e4a23998ec937e263b426
    159 rdf:rest Nd52c414b460d4b9e923e9b18652ded3d
    160 N7098e2215b884ff6ba6834f054c16382 rdf:first sg:person.0726243735.05
    161 rdf:rest N546298cebdf143a7a5631cca07a2c5b2
    162 N73066edb71ab4877876853f22a18669e rdf:first sg:person.01274772253.66
    163 rdf:rest N0f038661f6cb473c9f556dddeaf77b62
    164 N761f5a7495174ec08e04de23285ac38f schema:name Springer Nature - SN SciGraph project
    165 rdf:type schema:Organization
    166 N762ece1b65fa4e70aff514c92ec645e9 rdf:first sg:person.01017677042.62
    167 rdf:rest N5d931941f33a4a79a4e0d97d5935052b
    168 N79a664736f054b908ce1772585fa4828 rdf:first sg:person.01026635171.01
    169 rdf:rest Nab6f8c3895f14cbeb23eb274f8e71c24
    170 N7aeca0464364414bbf00ccc5a0beea91 rdf:first sg:person.01021427105.12
    171 rdf:rest rdf:nil
    172 N7fce46bd9a254618b131143dcec522f6 rdf:first sg:person.0747024472.82
    173 rdf:rest Nedfc4f97c86f471c865bf962d1e3fb07
    174 N84ea7969ab594fd488a7603f39b93ccb schema:name Division of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain
    175 rdf:type schema:Organization
    176 N8bad4a6f88904517b3364fb2000b793a schema:name Centro Academico de Medicina de Lisboa, Lisbon, Portugal
    177 rdf:type schema:Organization
    178 N8fa49190b7ba4e7d8df8c6fa0ac759f9 schema:affiliation https://www.grid.ac/institutes/grid.411048.8
    179 schema:familyName Couce
    180 schema:givenName M. L.
    181 rdf:type schema:Person
    182 N93e5b2f5889c49eebbec215cd314a99b schema:name Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany
    183 rdf:type schema:Organization
    184 N949ea394805d4f7eabd096a079daaea2 rdf:first sg:person.01034472772.20
    185 rdf:rest N0a30694ff1ab445992e2fd363e9cce44
    186 N972fddaff5814519b75c2427c8a53249 rdf:first sg:person.01341102651.30
    187 rdf:rest N216de6058d1849d08145d7c69a90265a
    188 N984290ee35a9470f92afecfb4d1d033e schema:name Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP-HP, University Paris Descartes, Paris, France
    189 rdf:type schema:Organization
    190 N9958b162c93546588a482108c4fc673f schema:name dimensions_id
    191 schema:value pub.1106526024
    192 rdf:type schema:PropertyValue
    193 N9c8814c5b9964e239944ffcf21615c48 rdf:first Ne6f3a22664d54e9ab7092d717d00058c
    194 rdf:rest Nb063c32d791240c08d03dff14e31d4ba
    195 N9c968417d5954fd0b93c2af56cb4c40b rdf:first sg:person.01366101350.48
    196 rdf:rest Na20e1a6f1ed84adebb0d05ba436e2bcc
    197 Na20e1a6f1ed84adebb0d05ba436e2bcc rdf:first Ndd4347e7bbd34be5a141a5f12d5abe12
    198 rdf:rest Na5369534d7bd4f24a386ed074d2b1c87
    199 Na5369534d7bd4f24a386ed074d2b1c87 rdf:first N5cbdc4890fb448c0870b41dca07dbac8
    200 rdf:rest Naf6b901913bc410e8e28c8d2b6765d8d
    201 Nab6f8c3895f14cbeb23eb274f8e71c24 rdf:first sg:person.013145301100.63
    202 rdf:rest Nbf95918b754046f5ad766cc8f5f23785
    203 Nabc613a19390469bb32a11d75fc662c3 rdf:first N2c9efb2eb7c24573b7a62e3c010ba3af
    204 rdf:rest N0730abffbf7e4ea5b112bcb3eaf7a7ab
    205 Nacf908fe728f4e918d3a7a6f248d8dad schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
    206 schema:familyName Grünewald
    207 schema:givenName S.
    208 rdf:type schema:Person
    209 Nae0a63aa3cf84685aff3abc7ac7fd42d rdf:first N120b228bed35495b96612b589125355c
    210 rdf:rest N6f5217ace82a4f558f3aa8a8e7dbe3bb
    211 Naf39f89dea324bac92cd0d703ebb65b6 schema:affiliation https://www.grid.ac/institutes/grid.8532.c
    212 schema:familyName Schwartz
    213 schema:givenName I. V.
    214 rdf:type schema:Person
    215 Naf43ab996f334e2ba137921096584eab schema:name doi
    216 schema:value 10.1007/s10545-018-0238-4
    217 rdf:type schema:PropertyValue
    218 Naf6b901913bc410e8e28c8d2b6765d8d rdf:first sg:person.012416531431.17
    219 rdf:rest Nfb9ccf2f0a04413abda89613bac39847
    220 Nb0616a6f7a074502b021e77c8bf5858b rdf:first sg:person.01144255525.71
    221 rdf:rest N949ea394805d4f7eabd096a079daaea2
    222 Nb063c32d791240c08d03dff14e31d4ba rdf:first Nb0ecf50896f64a28a142f2e36c9dca32
    223 rdf:rest N762ece1b65fa4e70aff514c92ec645e9
    224 Nb0a318ce033b412398e52d9f69b6fa46 schema:affiliation Nebcd00792f3040fb9db10857cd82c3c4
    225 schema:familyName Chabrol
    226 schema:givenName B.
    227 rdf:type schema:Person
    228 Nb0ecf50896f64a28a142f2e36c9dca32 schema:affiliation N84ea7969ab594fd488a7603f39b93ccb
    229 schema:familyName Meavilla Olivas
    230 schema:givenName S.
    231 rdf:type schema:Person
    232 Nb1150d1fa3ab4063991468317a6300f8 rdf:first sg:person.01156244631.78
    233 rdf:rest N513d206ab0d94152b58914f8d86c02e4
    234 Nb1fbc46a6a264a4695cc9128d79924da rdf:first sg:person.01262175577.74
    235 rdf:rest N4a529b7effe942c28b29359673fcd054
    236 Nb2dd975969eb4acdb2153b831bdfbd70 rdf:first Nb0a318ce033b412398e52d9f69b6fa46
    237 rdf:rest N1fb384ab93364497974df76485e96263
    238 Nb8939e15fa2b41fc9d90a182a6f8389d schema:affiliation https://www.grid.ac/institutes/grid.413235.2
    239 schema:familyName Schiff
    240 schema:givenName M.
    241 rdf:type schema:Person
    242 Nb91a4c66a04e48209ccbd1aecd636d04 rdf:first Nacf908fe728f4e918d3a7a6f248d8dad
    243 rdf:rest Nabc613a19390469bb32a11d75fc662c3
    244 Nba02744d3d004e15bd5f60ce865ad2b4 rdf:first sg:person.01133100171.15
    245 rdf:rest N6eb05c8ac53f45cdbf23d02394486258
    246 Nba93dd2ca3ba4bd597e174dd5e210f2a schema:affiliation https://www.grid.ac/institutes/grid.22937.3d
    247 schema:familyName Konstantopoulou
    248 schema:givenName V.
    249 rdf:type schema:Person
    250 Nbcd5488d8da64aa2886bce4a9641580a schema:affiliation N4a323024ae2d41b58360491d63be7a6f
    251 schema:familyName González-Lamuño
    252 schema:givenName D.
    253 rdf:type schema:Person
    254 Nbf95918b754046f5ad766cc8f5f23785 rdf:first sg:person.011054344355.43
    255 rdf:rest Nb0616a6f7a074502b021e77c8bf5858b
    256 Nc0e91ba4bd114dfe82a3e2e57ef320a4 rdf:first sg:person.015445355001.87
    257 rdf:rest Nba02744d3d004e15bd5f60ce865ad2b4
    258 Nc21a88043d1644baa4d6cd5816a4f9fc schema:affiliation N984290ee35a9470f92afecfb4d1d033e
    259 schema:familyName Servais
    260 schema:givenName A.
    261 rdf:type schema:Person
    262 Nca2e4dcc86a44706a7b7933e3fac0448 rdf:first Nffedcd16c3a3463babd511cbd2fdbcb0
    263 rdf:rest N7aeca0464364414bbf00ccc5a0beea91
    264 Ncc2f2a866f3d45c9a2dab65d428a6fdf rdf:first N8fa49190b7ba4e7d8df8c6fa0ac759f9
    265 rdf:rest Nb1fbc46a6a264a4695cc9128d79924da
    266 Ncd1cc4c2d9324655b3c25ca7cf56d8c4 rdf:first N2f95f6a7f6734a80ba2776579be20af5
    267 rdf:rest Nffca819270c84c9d9bdf25205098b559
    268 Nd52c414b460d4b9e923e9b18652ded3d rdf:first sg:person.01323702514.83
    269 rdf:rest N1cfc03e735364a7fbcba3d073daecc4f
    270 Nd5a993015e7143248e3fcde11f53415e rdf:first Nc21a88043d1644baa4d6cd5816a4f9fc
    271 rdf:rest Ne42ff1b0e66a4839a1880ce942978f5c
    272 Nd7852de94d1c43f1b53e66ff9a4cd06a schema:affiliation N470c2f61b6484f858d6c4df8cf389bc5
    273 schema:familyName Mochel
    274 schema:givenName F.
    275 rdf:type schema:Person
    276 Nd9194a39dd554656abc29109a2fea82b rdf:first Nfbf39e2d751247f297da8ed1b0406031
    277 rdf:rest Ne12ebd93795843f8973b89d6841cc8d1
    278 Ndb6614de5d11482a806cd2e946cfe0d8 rdf:first sg:person.016552767055.68
    279 rdf:rest Nb91a4c66a04e48209ccbd1aecd636d04
    280 Ndd4347e7bbd34be5a141a5f12d5abe12 schema:affiliation N28a07bae8c0c43a1854a94ad38a7c531
    281 schema:familyName Boy
    282 schema:givenName N.
    283 rdf:type schema:Person
    284 Ne12ebd93795843f8973b89d6841cc8d1 rdf:first sg:person.01232756146.05
    285 rdf:rest N9c968417d5954fd0b93c2af56cb4c40b
    286 Ne42ff1b0e66a4839a1880ce942978f5c rdf:first sg:person.07506623675.47
    287 rdf:rest Ncd1cc4c2d9324655b3c25ca7cf56d8c4
    288 Ne5eb5d1a08394cf2b4487ed3031d8f9f rdf:first sg:person.01214646041.23
    289 rdf:rest Ne684c8c09e8f4d9694cb776773a5d509
    290 Ne684c8c09e8f4d9694cb776773a5d509 rdf:first sg:person.01305075114.45
    291 rdf:rest N73066edb71ab4877876853f22a18669e
    292 Ne6f3a22664d54e9ab7092d717d00058c schema:affiliation https://www.grid.ac/institutes/grid.418340.a
    293 schema:familyName Martins
    294 schema:givenName E. G.
    295 rdf:type schema:Person
    296 Ne8255bb5715a47f6a78d758036d37d5b rdf:first Naf39f89dea324bac92cd0d703ebb65b6
    297 rdf:rest N501aec31872b48ed8509dc156e4befb7
    298 Ne86705b835a54fd1969d44eaf259c453 rdf:first Nba93dd2ca3ba4bd597e174dd5e210f2a
    299 rdf:rest N972fddaff5814519b75c2427c8a53249
    300 Ne9a0ce719a514b84b5cf9e9cb7ec7789 rdf:first sg:person.01333317666.54
    301 rdf:rest Ne5eb5d1a08394cf2b4487ed3031d8f9f
    302 Nebcd00792f3040fb9db10857cd82c3c4 schema:name Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone Enfants, Marseille, France
    303 rdf:type schema:Organization
    304 Ned0b9d0ab2134a7a8a29885e00c8c59d rdf:first sg:person.01153732072.12
    305 rdf:rest Ne86705b835a54fd1969d44eaf259c453
    306 Nedfc4f97c86f471c865bf962d1e3fb07 rdf:first N04bf472bae1c4315ab86ff2ab9af5c2c
    307 rdf:rest N47a99658fd334fd1b7fe321600ef012d
    308 Nf3e7f84853514ef0835cd42b4af9493d schema:name Division of Human Genetics, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    309 rdf:type schema:Organization
    310 Nf542c06d753a4169a7b6c8cb0b1e0e38 rdf:first sg:person.0773607352.02
    311 rdf:rest Nc0e91ba4bd114dfe82a3e2e57ef320a4
    312 Nf8318dac96694ea7926ef3c8dda9a004 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
    313 schema:familyName Blom
    314 schema:givenName Henk
    315 rdf:type schema:Person
    316 Nfb9ccf2f0a04413abda89613bac39847 rdf:first sg:person.01270370623.07
    317 rdf:rest Nb2dd975969eb4acdb2153b831bdfbd70
    318 Nfbf39e2d751247f297da8ed1b0406031 schema:affiliation N5cb4cfc05c0d42ea98a9631b8a7985e6
    319 schema:familyName Baethmann
    320 schema:givenName M.
    321 rdf:type schema:Person
    322 Nfc4b67b0eafd44fc81946b9b7422a055 schema:name Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany
    323 rdf:type schema:Organization
    324 Nfefa4685592e4a23998ec937e263b426 schema:affiliation N93e5b2f5889c49eebbec215cd314a99b
    325 schema:familyName Kölker
    326 schema:givenName Stefan
    327 rdf:type schema:Person
    328 Nffca819270c84c9d9bdf25205098b559 rdf:first sg:person.01043213015.52
    329 rdf:rest Nca2e4dcc86a44706a7b7933e3fac0448
    330 Nffedcd16c3a3463babd511cbd2fdbcb0 schema:affiliation https://www.grid.ac/institutes/grid.418447.a
    331 schema:familyName Walter
    332 schema:givenName J.
    333 rdf:type schema:Person
    334 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    335 schema:name Medical and Health Sciences
    336 rdf:type schema:DefinedTerm
    337 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
    338 schema:name Clinical Sciences
    339 rdf:type schema:DefinedTerm
    340 sg:journal.1090550 schema:issn 0141-8955
    341 1573-2665
    342 schema:name Journal of Inherited Metabolic Disease
    343 rdf:type schema:Periodical
    344 sg:person.01017677042.62 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    345 schema:familyName Mention
    346 schema:givenName K.
    347 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017677042.62
    348 rdf:type schema:Person
    349 sg:person.01021427105.12 schema:affiliation https://www.grid.ac/institutes/grid.430503.1
    350 schema:familyName Weisfeld-Adams
    351 schema:givenName J.
    352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021427105.12
    353 rdf:type schema:Person
    354 sg:person.01026635171.01 schema:affiliation Nf3e7f84853514ef0835cd42b4af9493d
    355 schema:familyName Ficicioglu
    356 schema:givenName C.
    357 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026635171.01
    358 rdf:type schema:Person
    359 sg:person.01034472772.20 schema:affiliation https://www.grid.ac/institutes/grid.411656.1
    360 schema:familyName Gautschi
    361 schema:givenName M.
    362 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01034472772.20
    363 rdf:type schema:Person
    364 sg:person.01043213015.52 schema:affiliation https://www.grid.ac/institutes/grid.411372.2
    365 schema:familyName Vives Piñera
    366 schema:givenName I.
    367 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043213015.52
    368 rdf:type schema:Person
    369 sg:person.01051323167.56 schema:affiliation https://www.grid.ac/institutes/grid.411798.2
    370 schema:familyName Jesina
    371 schema:givenName P.
    372 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051323167.56
    373 rdf:type schema:Person
    374 sg:person.011054344355.43 schema:affiliation https://www.grid.ac/institutes/grid.144756.5
    375 schema:familyName García Silva
    376 schema:givenName M. T.
    377 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011054344355.43
    378 rdf:type schema:Person
    379 sg:person.01130311430.86 schema:affiliation https://www.grid.ac/institutes/grid.5361.1
    380 schema:familyName Scholl-Bürgi
    381 schema:givenName S.
    382 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130311430.86
    383 rdf:type schema:Person
    384 sg:person.01133100171.15 schema:affiliation https://www.grid.ac/institutes/grid.411107.2
    385 schema:familyName Pedrón-Giner
    386 schema:givenName C.
    387 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133100171.15
    388 rdf:type schema:Person
    389 sg:person.01144255525.71 schema:affiliation N8bad4a6f88904517b3364fb2000b793a
    390 schema:familyName Gaspar
    391 schema:givenName A. M.
    392 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144255525.71
    393 rdf:type schema:Person
    394 sg:person.01153732072.12 schema:affiliation https://www.grid.ac/institutes/grid.21604.31
    395 schema:familyName Koch
    396 schema:givenName J.
    397 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153732072.12
    398 rdf:type schema:Person
    399 sg:person.01156244631.78 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
    400 schema:familyName Seifert
    401 schema:givenName Burkhardt
    402 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156244631.78
    403 rdf:type schema:Person
    404 sg:person.01171403055.64 schema:affiliation https://www.grid.ac/institutes/grid.483570.d
    405 schema:familyName Mundy
    406 schema:givenName H.
    407 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171403055.64
    408 rdf:type schema:Person
    409 sg:person.01214646041.23 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    410 schema:familyName Diodato
    411 schema:givenName Daria
    412 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214646041.23
    413 rdf:type schema:Person
    414 sg:person.01232756146.05 schema:affiliation https://www.grid.ac/institutes/grid.8515.9
    415 schema:familyName Ballhausen
    416 schema:givenName D.
    417 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232756146.05
    418 rdf:type schema:Person
    419 sg:person.012416531431.17 schema:affiliation https://www.grid.ac/institutes/grid.411083.f
    420 schema:familyName Burgos Peláez
    421 schema:givenName R.
    422 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012416531431.17
    423 rdf:type schema:Person
    424 sg:person.01262175577.74 schema:affiliation https://www.grid.ac/institutes/grid.412459.f
    425 schema:familyName Crushell
    426 schema:givenName E.
    427 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262175577.74
    428 rdf:type schema:Person
    429 sg:person.01270370623.07 schema:affiliation https://www.grid.ac/institutes/grid.419504.d
    430 schema:familyName Cerone
    431 schema:givenName R.
    432 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270370623.07
    433 rdf:type schema:Person
    434 sg:person.01274772253.66 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    435 schema:familyName Olivieri
    436 schema:givenName Giorgia
    437 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274772253.66
    438 rdf:type schema:Person
    439 sg:person.01301761047.04 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
    440 schema:familyName Baumgartner
    441 schema:givenName Matthias R.
    442 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01301761047.04
    443 rdf:type schema:Person
    444 sg:person.01305075114.45 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    445 schema:familyName Martinelli
    446 schema:givenName Diego
    447 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305075114.45
    448 rdf:type schema:Person
    449 sg:person.013145301100.63 schema:affiliation https://www.grid.ac/institutes/grid.411106.3
    450 schema:familyName García Jimenez
    451 schema:givenName M. C.
    452 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013145301100.63
    453 rdf:type schema:Person
    454 sg:person.01323702514.83 schema:affiliation https://www.grid.ac/institutes/grid.411798.2
    455 schema:familyName Kožich
    456 schema:givenName Viktor
    457 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01323702514.83
    458 rdf:type schema:Person
    459 sg:person.01333317666.54 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
    460 schema:familyName Huemer
    461 schema:givenName Martina
    462 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333317666.54
    463 rdf:type schema:Person
    464 sg:person.01341102651.30 schema:affiliation https://www.grid.ac/institutes/grid.411147.6
    465 schema:familyName Lavigne
    466 schema:givenName C.
    467 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341102651.30
    468 rdf:type schema:Person
    469 sg:person.01366101350.48 schema:affiliation https://www.grid.ac/institutes/grid.411457.2
    470 schema:familyName Blasco-Alonso
    471 schema:givenName J.
    472 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366101350.48
    473 rdf:type schema:Person
    474 sg:person.014252620102.42 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
    475 schema:familyName Janssen
    476 schema:givenName M. C. H.
    477 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014252620102.42
    478 rdf:type schema:Person
    479 sg:person.014257250036.48 schema:affiliation https://www.grid.ac/institutes/grid.411164.7
    480 schema:familyName Ruiz Gómez
    481 schema:givenName M. A.
    482 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014257250036.48
    483 rdf:type schema:Person
    484 sg:person.014524553725.44 schema:affiliation https://www.grid.ac/institutes/grid.84393.35
    485 schema:familyName Dalmau Serra
    486 schema:givenName J.
    487 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014524553725.44
    488 rdf:type schema:Person
    489 sg:person.015442762727.69 schema:affiliation https://www.grid.ac/institutes/grid.411280.e
    490 schema:familyName Alcalde Martin
    491 schema:givenName C.
    492 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015442762727.69
    493 rdf:type schema:Person
    494 sg:person.015445355001.87 schema:affiliation https://www.grid.ac/institutes/grid.48769.34
    495 schema:familyName Paquay
    496 schema:givenName S.
    497 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015445355001.87
    498 rdf:type schema:Person
    499 sg:person.016552767055.68 schema:affiliation https://www.grid.ac/institutes/grid.411048.8
    500 schema:familyName Gouveia
    501 schema:givenName S.
    502 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016552767055.68
    503 rdf:type schema:Person
    504 sg:person.0675072774.16 schema:affiliation https://www.grid.ac/institutes/grid.7400.3
    505 schema:familyName Froese
    506 schema:givenName D. Sean
    507 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675072774.16
    508 rdf:type schema:Person
    509 sg:person.0726243735.05 schema:affiliation https://www.grid.ac/institutes/grid.498025.2
    510 schema:familyName Santra
    511 schema:givenName S.
    512 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726243735.05
    513 rdf:type schema:Person
    514 sg:person.0747024472.82 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    515 schema:familyName Dionisi-Vici
    516 schema:givenName Carlo
    517 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747024472.82
    518 rdf:type schema:Person
    519 sg:person.07506623675.47 schema:affiliation https://www.grid.ac/institutes/grid.413408.a
    520 schema:familyName Skouma
    521 schema:givenName A.
    522 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07506623675.47
    523 rdf:type schema:Person
    524 sg:person.0761713725.74 schema:affiliation https://www.grid.ac/institutes/grid.28911.33
    525 schema:familyName Diogo
    526 schema:givenName L.
    527 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761713725.74
    528 rdf:type schema:Person
    529 sg:person.0773607352.02 schema:affiliation https://www.grid.ac/institutes/grid.436283.8
    530 schema:familyName Murphy
    531 schema:givenName E.
    532 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773607352.02
    533 rdf:type schema:Person
    534 sg:pub.10.1007/8904_2015_517 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020772723
    535 https://doi.org/10.1007/8904_2015_517
    536 rdf:type schema:CreativeWork
    537 sg:pub.10.1007/8904_2017_11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084495705
    538 https://doi.org/10.1007/8904_2017_11
    539 rdf:type schema:CreativeWork
    540 sg:pub.10.1007/s00467-016-3399-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042411322
    541 https://doi.org/10.1007/s00467-016-3399-0
    542 rdf:type schema:CreativeWork
    543 sg:pub.10.1007/s10545-009-1257-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1010901107
    544 https://doi.org/10.1007/s10545-009-1257-y
    545 rdf:type schema:CreativeWork
    546 sg:pub.10.1007/s10545-010-9120-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038394743
    547 https://doi.org/10.1007/s10545-010-9120-8
    548 rdf:type schema:CreativeWork
    549 sg:pub.10.1007/s10545-010-9161-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1002645323
    550 https://doi.org/10.1007/s10545-010-9161-z
    551 rdf:type schema:CreativeWork
    552 sg:pub.10.1007/s10545-011-9365-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035405873
    553 https://doi.org/10.1007/s10545-011-9365-x
    554 rdf:type schema:CreativeWork
    555 sg:pub.10.1007/s10545-011-9418-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046973287
    556 https://doi.org/10.1007/s10545-011-9418-1
    557 rdf:type schema:CreativeWork
    558 sg:pub.10.1007/s10545-014-9687-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041986342
    559 https://doi.org/10.1007/s10545-014-9687-6
    560 rdf:type schema:CreativeWork
    561 sg:pub.10.1007/s10545-015-9830-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1045377402
    562 https://doi.org/10.1007/s10545-015-9830-z
    563 rdf:type schema:CreativeWork
    564 sg:pub.10.1007/s10545-015-9839-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034689676
    565 https://doi.org/10.1007/s10545-015-9839-3
    566 rdf:type schema:CreativeWork
    567 sg:pub.10.1007/s10545-015-9840-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1038973483
    568 https://doi.org/10.1007/s10545-015-9840-x
    569 rdf:type schema:CreativeWork
    570 sg:pub.10.1007/s10545-016-9979-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017155631
    571 https://doi.org/10.1007/s10545-016-9979-0
    572 rdf:type schema:CreativeWork
    573 sg:pub.10.1007/s10545-016-9991-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008836798
    574 https://doi.org/10.1007/s10545-016-9991-4
    575 rdf:type schema:CreativeWork
    576 sg:pub.10.1023/a:1005353530303 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051874523
    577 https://doi.org/10.1023/a:1005353530303
    578 rdf:type schema:CreativeWork
    579 sg:pub.10.1038/gim.2015.107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017129027
    580 https://doi.org/10.1038/gim.2015.107
    581 rdf:type schema:CreativeWork
    582 sg:pub.10.1038/gim.2016.214 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083405365
    583 https://doi.org/10.1038/gim.2016.214
    584 rdf:type schema:CreativeWork
    585 sg:pub.10.1038/ng1683 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038556238
    586 https://doi.org/10.1038/ng1683
    587 rdf:type schema:CreativeWork
    588 sg:pub.10.1186/s13023-017-0579-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083403203
    589 https://doi.org/10.1186/s13023-017-0579-3
    590 rdf:type schema:CreativeWork
    591 https://app.dimensions.ai/details/publication/pub.1074779965 schema:CreativeWork
    592 https://doi.org/10.1001/jamaneurol.2013.4915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035416157
    593 rdf:type schema:CreativeWork
    594 https://doi.org/10.1002/ajmg.10499 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048726109
    595 rdf:type schema:CreativeWork
    596 https://doi.org/10.1002/ajmg.a.31932 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045431881
    597 rdf:type schema:CreativeWork
    598 https://doi.org/10.1002/humu.21001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002534192
    599 rdf:type schema:CreativeWork
    600 https://doi.org/10.1002/humu.21107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006247332
    601 rdf:type schema:CreativeWork
    602 https://doi.org/10.1002/humu.22970 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051364999
    603 rdf:type schema:CreativeWork
    604 https://doi.org/10.1007/s10545-011-9418-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046973287
    605 rdf:type schema:CreativeWork
    606 https://doi.org/10.1016/j.cca.2015.09.012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015708626
    607 rdf:type schema:CreativeWork
    608 https://doi.org/10.1016/j.jaapos.2008.06.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040410307
    609 rdf:type schema:CreativeWork
    610 https://doi.org/10.1016/j.ophtha.2013.08.034 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011340505
    611 rdf:type schema:CreativeWork
    612 https://doi.org/10.1016/j.ymgme.2007.11.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050406642
    613 rdf:type schema:CreativeWork
    614 https://doi.org/10.1016/j.ymgme.2013.05.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018910524
    615 rdf:type schema:CreativeWork
    616 https://doi.org/10.1016/j.ymgme.2013.07.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049860052
    617 rdf:type schema:CreativeWork
    618 https://doi.org/10.1016/j.ymgme.2015.01.012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017189407
    619 rdf:type schema:CreativeWork
    620 https://doi.org/10.1016/s0022-3476(88)80114-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033244309
    621 rdf:type schema:CreativeWork
    622 https://doi.org/10.1016/s0140-6736(12)60820-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025793568
    623 rdf:type schema:CreativeWork
    624 https://doi.org/10.1046/j.1365-2125.2003.01717.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1006619321
    625 rdf:type schema:CreativeWork
    626 https://doi.org/10.1055/s-2000-12947 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057401929
    627 rdf:type schema:CreativeWork
    628 https://doi.org/10.1055/s-2005-873057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057449858
    629 rdf:type schema:CreativeWork
    630 https://doi.org/10.1074/jbc.m407733200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023428391
    631 rdf:type schema:CreativeWork
    632 https://doi.org/10.1080/13816810500481758 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004831018
    633 rdf:type schema:CreativeWork
    634 https://doi.org/10.1111/1471-0528.12281 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037793042
    635 rdf:type schema:CreativeWork
    636 https://doi.org/10.1111/aos.13441 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085224004
    637 rdf:type schema:CreativeWork
    638 https://doi.org/10.1177/088307380001500808 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047106426
    639 rdf:type schema:CreativeWork
    640 https://doi.org/10.1177/0969141316641149 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063907868
    641 rdf:type schema:CreativeWork
    642 https://doi.org/10.1373/clinchem.2003.021634 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042536093
    643 rdf:type schema:CreativeWork
    644 https://doi.org/10.1542/peds.2012-2581 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013386728
    645 rdf:type schema:CreativeWork
    646 https://doi.org/10.3389/fmolb.2016.00027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007203249
    647 rdf:type schema:CreativeWork
    648 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
    649 schema:name Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
    650 rdf:type schema:Organization
    651 https://www.grid.ac/institutes/grid.144756.5 schema:alternateName Hospital Universitario 12 De Octubre
    652 schema:name Universitary Hospital 12 Octubre, Madrid, Spain
    653 rdf:type schema:Organization
    654 https://www.grid.ac/institutes/grid.16872.3a schema:alternateName VU University Medical Center
    655 schema:name Department of Internal Medicine, VU Medical Center, Amsterdam, Netherlands
    656 rdf:type schema:Organization
    657 https://www.grid.ac/institutes/grid.21604.31 schema:alternateName Paracelsus Private Medical University of Salzburg
    658 schema:name Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria
    659 rdf:type schema:Organization
    660 https://www.grid.ac/institutes/grid.22937.3d schema:alternateName Medical University of Vienna
    661 schema:name Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria
    662 rdf:type schema:Organization
    663 https://www.grid.ac/institutes/grid.239560.b schema:alternateName Children’s National Health System
    664 schema:name Children’s National Rare Disease Institute, Washington, DC, USA
    665 rdf:type schema:Organization
    666 https://www.grid.ac/institutes/grid.28911.33 schema:alternateName Hospitais da Universidade de Coimbra
    667 schema:name Centro Hospitalar e Universitário de Coimbra, MetaERN, Coimbra, Portugal
    668 rdf:type schema:Organization
    669 https://www.grid.ac/institutes/grid.411048.8 schema:alternateName Complejo Hospitalario Universitario de Santiago
    670 schema:name Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain
    671 rdf:type schema:Organization
    672 https://www.grid.ac/institutes/grid.411083.f schema:alternateName Hospital Universitari Vall d'Hebron
    673 schema:name Nutritional Support Unit, University Hospital Vall d’Hebron, Barcelona, Spain
    674 rdf:type schema:Organization
    675 https://www.grid.ac/institutes/grid.411106.3 schema:alternateName Hospital Universitario Miguel Servet
    676 schema:name Hospital Infantil Miguel Servet, Zaragoza, Spain
    677 rdf:type schema:Organization
    678 https://www.grid.ac/institutes/grid.411107.2 schema:alternateName Hospital Infantil Universitario Niño Jesús
    679 schema:name Division of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, Madrid, Spain
    680 rdf:type schema:Organization
    681 https://www.grid.ac/institutes/grid.411109.c schema:alternateName Hospital Universitario Virgen del Rocío
    682 schema:name Hospital Universitario Virgen del Rocío, Sevilla, Spain
    683 rdf:type schema:Organization
    684 https://www.grid.ac/institutes/grid.411147.6 schema:alternateName Centre Hospitalier Universitaire de Angers
    685 schema:name Médecine Interne et Maladies Vasculaires, Centre Hospitalier Universitaire Angers, Angers, France
    686 rdf:type schema:Organization
    687 https://www.grid.ac/institutes/grid.411164.7 schema:alternateName Hospital Universitario Son Espases
    688 schema:name Metabolic Neuropediatric Unit, University Hospital Son Espases, Palma de Mallorca, Spain
    689 rdf:type schema:Organization
    690 https://www.grid.ac/institutes/grid.411280.e schema:alternateName Hospital Universitario Río Hortega
    691 schema:name Hospital Universitario Río Hortega, Valladolid, Spain
    692 rdf:type schema:Organization
    693 https://www.grid.ac/institutes/grid.411372.2 schema:alternateName Hospital Universitario Virgen de la Arrixaca
    694 schema:name Hospital Universitario Virgen de la Arrixaca, El Palmar, Spain
    695 rdf:type schema:Organization
    696 https://www.grid.ac/institutes/grid.411457.2 schema:alternateName Hospital Regional Universitario de Málaga
    697 schema:name Sección de Gastroenterología y Nutrición Pediátrica, Hospital Regional de Málaga, Málaga, Spain
    698 rdf:type schema:Organization
    699 https://www.grid.ac/institutes/grid.411656.1 schema:alternateName University Hospital of Bern
    700 schema:name Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and Metabolism, University Children’s Hospital and University Institute of Clinical Chemistry, Inselspital, Berne, Switzerland
    701 rdf:type schema:Organization
    702 https://www.grid.ac/institutes/grid.411798.2 schema:alternateName General University hospital
    703 schema:name Department of Pediatrics and Adolescent Medicine, Charles University—First Faculty of Medicine and General University Hospital, Prague, Czech Republic
    704 rdf:type schema:Organization
    705 https://www.grid.ac/institutes/grid.412346.6 schema:alternateName Salford Royal NHS Foundation Trust
    706 schema:name Salford Royal NHS Foundation Trust, Salford, UK
    707 rdf:type schema:Organization
    708 https://www.grid.ac/institutes/grid.412459.f schema:alternateName Temple Street Children's University Hospital
    709 schema:name National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland
    710 rdf:type schema:Organization
    711 https://www.grid.ac/institutes/grid.413235.2 schema:alternateName Hôpital Robert Debré
    712 schema:name Reference Center for Inherited Metabolic Diseases, AP-HP, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité and INSERM U1141, Paris, France
    713 rdf:type schema:Organization
    714 https://www.grid.ac/institutes/grid.413408.a schema:alternateName Children's Hospital Agia Sophia
    715 schema:name Agia Sofia Children’s Hospital 1st Department of Pediatrics, University of Athens Thivon & Levadias, Athens, Greece
    716 rdf:type schema:Organization
    717 https://www.grid.ac/institutes/grid.414125.7 schema:alternateName Bambino Gesù Children's Hospital
    718 schema:name Division of Metabolism, Bambino Gesù Children’s Hospital, Rome, Italy
    719 rdf:type schema:Organization
    720 https://www.grid.ac/institutes/grid.414184.c schema:alternateName Hôpital Jeanne de Flandre
    721 schema:name Hôpital Jeanne de Flandre, Lille, France
    722 rdf:type schema:Organization
    723 https://www.grid.ac/institutes/grid.418340.a schema:alternateName Centro Hospitalar do Porto
    724 schema:name Reference Center for Inherited Metabolic Diseases, Centro Hospitalar do Porto, Porto, Portugal
    725 rdf:type schema:Organization
    726 https://www.grid.ac/institutes/grid.418447.a schema:alternateName Bradford Royal Infirmary
    727 schema:name Bradford Royal Infirmary, Bradford, UK
    728 Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    729 rdf:type schema:Organization
    730 https://www.grid.ac/institutes/grid.419504.d schema:alternateName Istituto Giannina Gaslini
    731 schema:name University Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy
    732 rdf:type schema:Organization
    733 https://www.grid.ac/institutes/grid.430503.1 schema:alternateName University of Colorado Anschutz Medical Campus
    734 schema:name Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO, USA
    735 rdf:type schema:Organization
    736 https://www.grid.ac/institutes/grid.436283.8 schema:alternateName National Hospital for Neurology and Neurosurgery
    737 schema:name Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK
    738 rdf:type schema:Organization
    739 https://www.grid.ac/institutes/grid.451052.7 schema:alternateName National Health Service
    740 schema:name Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    741 rdf:type schema:Organization
    742 https://www.grid.ac/institutes/grid.483570.d schema:alternateName Evelina London Children's Hospital
    743 schema:name Evelina London Children’s Hospital, London, UK
    744 rdf:type schema:Organization
    745 https://www.grid.ac/institutes/grid.48769.34 schema:alternateName Cliniques Universitaires Saint-Luc
    746 schema:name Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium
    747 rdf:type schema:Organization
    748 https://www.grid.ac/institutes/grid.498025.2 schema:alternateName Birmingham Women’s and Children’s NHS Foundation Trust
    749 schema:name Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
    750 rdf:type schema:Organization
    751 https://www.grid.ac/institutes/grid.5361.1 schema:alternateName Innsbruck Medical University
    752 schema:name Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria
    753 rdf:type schema:Organization
    754 https://www.grid.ac/institutes/grid.7400.3 schema:alternateName University of Zurich
    755 schema:name Department of Biostatistics at Epidemiology, Biostatistics and Prevention Institute, University Zürich, Zürich, Switzerland
    756 Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria
    757 Division of Metabolism and Children’s Research Center, University Children’s Hospital, Zürich, Switzerland
    758 radiz—Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland
    759 rdf:type schema:Organization
    760 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
    761 schema:name Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK
    762 rdf:type schema:Organization
    763 https://www.grid.ac/institutes/grid.84393.35 schema:alternateName Hospital Universitari i Politècnic La Fe
    764 schema:name Unidad de Nutrición y Metabolopatías, Hospital Universitario La Fe, Valencia, Spain
    765 rdf:type schema:Organization
    766 https://www.grid.ac/institutes/grid.8515.9 schema:alternateName University Hospital of Lausanne
    767 schema:name Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland
    768 rdf:type schema:Organization
    769 https://www.grid.ac/institutes/grid.8532.c schema:alternateName Federal University of Rio Grande do Sul
    770 schema:name Hospital de Clínicas de Porto Alegre and Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    771 rdf:type schema:Organization
     




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


    ...