Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-09

AUTHORS

Julien Baruteau, Philippe Sachs, Pierre Broué, Michèle Brivet, Hendy Abdoul, Christine Vianey-Saban, Hélène Ogier de Baulny

ABSTRACT

INTRODUCTION: Mitochondrial fatty acid β-oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with favorable prognosis following diagnosis. A description of the broad range of phenotypes resulting from these defects remains incomplete, and for this study, we sought to investigate the semiology at diagnosis in a country without a newborn screening program for FAODs. METHODS: Using a retrospective French multicentre study, we analyzed 187 children aged <6 years at diagnosis with FAOD confirmed by enzymatic and/or molecular analyses. Clinical and biological parameters at diagnosis were assessed to screen liver, heart, neurological, and muscle symptoms. Information concerning the long-term prognosis was also collected. RESULTS: Predominant hepatic symptoms were observed in 89 % of patients regardless of the underlying defect. The most frequent symptoms observed were hepatomegaly (92 %), increased blood alanine aminotransferase (ALAT) level (82 %), and steatosis (88 %). Other frequent features included Reye syndrome (49 %), increased gamma-glutamyltranspeptidase (GGT) (37 %), and liver failure (27 %). Extrahepatic features were often associated in the foreground. Hypoglycemia (75 %), neurological (64 %), muscle (61 %), or cardiac features (55 %) [as either cardiomyopathy (47 %) or arrhythmias (31 %)] were frequently documented. Hemodynamic events (41 %) were represented by shock (31 %) or sudden death (35 %). Hyperammonemia (73 %) and hyperlactacidemia (57 %) were the two main biochemical features. Total, very-long-chain acyl-CoA dehydrogenase (VLCADD), long-chain 3-hydroxyacylCoA dehydrogenase (LCHADD), and medium-chain acyl-CoA dehydrogenase (MCADD) deficiency mortality rates were 48 %, 60 %, 63 %, and 20 % respectively. CONCLUSION: This study presents clinical features of a large cohort of patients with FAODs in a country without neonatal screening for FAODs. Our results highlight liver as the main organ involved at diagnosis regardless of age at diagnosis, classical phenotype (i.e., cardiac, hepatic, or muscular), or enzyme deficiency. Although steatosis may be observed in various inherited metabolic defects, it is a reliable indicator of FAOD and should prompt systematic screening when the diagnosis is suspected. The poor long-term prognoses reported are a strong argument for inclusion of FAODs in newborn screening programs. More... »

PAGES

795-803

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-012-9542-6

DOI

http://dx.doi.org/10.1007/s10545-012-9542-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1000459358

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23053472


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Acyl-CoA Dehydrogenase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Acyl-CoA Dehydrogenase, Long-Chain", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fatty Acids", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lipid Metabolism, Inborn Errors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mitochondria", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oxidation-Reduction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retrospective Studies", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
          "id": "https://www.grid.ac/institutes/grid.42399.35", 
          "name": [
            "H\u00e9patologie P\u00e9diatrique et Maladies M\u00e9taboliques, H\u00f4pital des Enfants\u2013CHU Toulouse, Toulouse, France", 
            "H\u00e9patogastroent\u00e9rologie P\u00e9diatrique et Maladies M\u00e9taboliques, 330 avenue de Grande Bretagne, H\u00f4pital des Enfants, 31059, Toulouse cedex 9, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baruteau", 
        "givenName": "Julien", 
        "id": "sg:person.01166002062.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166002062.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "R\u00e9animation P\u00e9diatrique\u2013H\u00f4pital Robert Debr\u00e9\u2013AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sachs", 
        "givenName": "Philippe", 
        "id": "sg:person.01235750030.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235750030.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "H\u00e9patologie P\u00e9diatrique et Maladies M\u00e9taboliques, H\u00f4pital des Enfants\u2013CHU Toulouse, Toulouse, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brou\u00e9", 
        "givenName": "Pierre", 
        "id": "sg:person.01122127267.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122127267.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Biochimie M\u00e9tabolique\u2013H\u00f4pital de Bic\u00eatre\u2013AP-HP, Le Kremlin Bic\u00eatre, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brivet", 
        "givenName": "Mich\u00e8le", 
        "id": "sg:person.0645743625.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645743625.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epid\u00e9miologie Clinique\u2013H\u00f4pital Robert Debr\u00e9\u2013AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abdoul", 
        "givenName": "Hendy", 
        "id": "sg:person.01277603545.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277603545.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et D\u00e9pistage N\u00e9onatal\u2013CBPE\u2013CHU Lyon, Bron, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vianey-Saban", 
        "givenName": "Christine", 
        "id": "sg:person.01112743374.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112743374.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Neurologie P\u00e9diatrique et Maladies M\u00e9taboliques\u2013H\u00f4pital Robert Debr\u00e9\u2013AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogier de Baulny", 
        "givenName": "H\u00e9l\u00e8ne", 
        "id": "sg:person.0724754007.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.spen.2008.05.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000902382"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02072051", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001766271", 
          "https://doi.org/10.1007/bf02072051"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02072051", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001766271", 
          "https://doi.org/10.1007/bf02072051"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-003-1246-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001974473", 
          "https://doi.org/10.1007/s00431-003-1246-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1005556207210", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002411928", 
          "https://doi.org/10.1023/a:1005556207210"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-009-9001-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003206161", 
          "https://doi.org/10.1007/s10545-009-9001-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/s10545-009-9001-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003206161"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1742-4658.2010.07876.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003282537"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.2007.134957", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003654963"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/3-540-28962-3_16", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013743583", 
          "https://doi.org/10.1007/3-540-28962-3_16"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-3-540-28785-8_13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015529034", 
          "https://doi.org/10.1007/978-3-540-28785-8_13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/hep.1840060608", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019054094"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-6-44", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021779112", 
          "https://doi.org/10.1186/1750-1172-6-44"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0887-8994(91)90009-a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025426591"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0887-8994(91)90009-a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025426591"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-008-0990-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026862458", 
          "https://doi.org/10.1007/s10545-008-0990-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem.2009.22.12.1175", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028376583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.cir.100.22.2248", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029311097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(98)70385-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029816678"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/cnd.0b013e3181903126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029823922"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/cnd.0b013e3181903126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029823922"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/cnd.0b013e3181903126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029823922"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.physiol.64.082201.154705", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032552763"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/hep.22284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032705468"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.76.6.555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035041794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/00006450-198210000-00015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037113555", 
          "https://doi.org/10.1203/00006450-198210000-00015"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.arcped.2011.10.025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038430983"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10545-009-1125-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042389789", 
          "https://doi.org/10.1007/s10545-009-1125-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/s10545-009-1125-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042389789"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.66.6.727", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042858004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/000456329503200204", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044927323"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/000456329503200204", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044927323"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(87)91752-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045399293"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199812103392405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046775887"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1024429032116", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049151183", 
          "https://doi.org/10.1023/a:1024429032116"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/519219", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058792130"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00005176-199808000-00019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060201278"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00005176-199808000-00019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060201278"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00005176-199808000-00019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060201278"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.182.4115.929", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062508612"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2008-0586", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067826983"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077641307", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-09", 
    "datePublishedReg": "2013-09-01", 
    "description": "INTRODUCTION: Mitochondrial fatty acid \u03b2-oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with favorable prognosis following diagnosis. A description of the broad range of phenotypes resulting from these defects remains incomplete, and for this study, we sought to investigate the semiology at diagnosis in a country without a newborn screening program for FAODs.\nMETHODS: Using a retrospective French multicentre study, we analyzed 187 children aged <6\u00a0years at diagnosis with FAOD confirmed by enzymatic and/or molecular analyses. Clinical and biological parameters at diagnosis were assessed to screen liver, heart, neurological, and muscle symptoms. Information concerning the long-term prognosis was also collected.\nRESULTS: Predominant hepatic symptoms were observed in 89\u00a0% of patients regardless of the underlying defect. The most frequent symptoms observed were hepatomegaly (92\u00a0%), increased blood alanine aminotransferase (ALAT) level (82\u00a0%), and steatosis (88\u00a0%). Other frequent features included Reye syndrome (49\u00a0%), increased gamma-glutamyltranspeptidase (GGT) (37\u00a0%), and liver failure (27\u00a0%). Extrahepatic features were often associated in the foreground. Hypoglycemia (75\u00a0%), neurological (64\u00a0%), muscle (61\u00a0%), or cardiac features (55\u00a0%) [as either cardiomyopathy (47\u00a0%) or arrhythmias (31\u00a0%)] were frequently documented. Hemodynamic events (41\u00a0%) were represented by shock (31\u00a0%) or sudden death (35\u00a0%). Hyperammonemia (73\u00a0%) and hyperlactacidemia (57\u00a0%) were the two main biochemical features. Total, very-long-chain acyl-CoA dehydrogenase (VLCADD), long-chain 3-hydroxyacylCoA dehydrogenase (LCHADD), and medium-chain acyl-CoA dehydrogenase (MCADD) deficiency mortality rates were 48\u00a0%, 60\u00a0%, 63\u00a0%, and 20\u00a0% respectively.\nCONCLUSION: This study presents clinical features of a large cohort of patients with FAODs in a country without neonatal screening for FAODs. Our results highlight liver as the main organ involved at diagnosis regardless of age at diagnosis, classical phenotype (i.e., cardiac, hepatic, or muscular), or enzyme deficiency. Although steatosis may be observed in various inherited metabolic defects, it is a reliable indicator of FAOD and should prompt systematic screening when the diagnosis is suspected. The poor long-term prognoses reported are a strong argument for inclusion of FAODs in newborn screening programs.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10545-012-9542-6", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1090550", 
        "issn": [
          "0141-8955", 
          "1573-2665"
        ], 
        "name": "Journal of Inherited Metabolic Disease", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "36"
      }
    ], 
    "name": "Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients", 
    "pagination": "795-803", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "022fab733d7b63cb707d4a0b1b8aa69330f5c21f52276d3e39924a0ba71b6ca4"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23053472"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7910918"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10545-012-9542-6"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1000459358"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10545-012-9542-6", 
      "https://app.dimensions.ai/details/publication/pub.1000459358"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:13", 
    "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_8675_00000479.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s10545-012-9542-6"
  }
]
 

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/s10545-012-9542-6'

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/s10545-012-9542-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10545-012-9542-6'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10545-012-9542-6'


 

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

295 TRIPLES      21 PREDICATES      78 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10545-012-9542-6 schema:about N0537511ec48d43f3a932e1332d9fc528
2 N432b1b1f8d424f009a06e4623c532877
3 N4e036c9714934fd488581b508d799400
4 N521ea86fda63470988ec538aad6b5c4b
5 N528d06343bdd4def9179a514c1e44bd9
6 N5592cc52f63d4bd89c989aaad0d3550b
7 N72b3cd27845a4ae0a908be0b41f3f9e3
8 N7914062fa0744bcea754c196fb122f09
9 N796e3bf665b244ac8e07637c373da589
10 N8020c008acbc407cb7bd3f5a0b49c48e
11 N90f09709ffbd43e1959688da0f230884
12 Na38c53ee09424444922f83ca5f52c004
13 Naef548759df846049b774a7f0415d2e9
14 Nb2f0550580b248e8a3ddded6fc073720
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N7df94885c2564a25bf6fb7ac1b8ccffd
18 schema:citation sg:pub.10.1007/3-540-28962-3_16
19 sg:pub.10.1007/978-3-540-28785-8_13
20 sg:pub.10.1007/bf02072051
21 sg:pub.10.1007/s00431-003-1246-3
22 sg:pub.10.1007/s10545-008-0990-y
23 sg:pub.10.1007/s10545-009-1125-9
24 sg:pub.10.1007/s10545-009-9001-1
25 sg:pub.10.1023/a:1005556207210
26 sg:pub.10.1023/a:1024429032116
27 sg:pub.10.1186/1750-1172-6-44
28 sg:pub.10.1203/00006450-198210000-00015
29 https://app.dimensions.ai/details/publication/pub.1077641307
30 https://doi.org/10.1002/hep.1840060608
31 https://doi.org/10.1002/hep.22284
32 https://doi.org/10.1007/s10545-009-1125-9
33 https://doi.org/10.1007/s10545-009-9001-1
34 https://doi.org/10.1016/0887-8994(91)90009-a
35 https://doi.org/10.1016/j.arcped.2011.10.025
36 https://doi.org/10.1016/j.spen.2008.05.008
37 https://doi.org/10.1016/s0022-3476(98)70385-3
38 https://doi.org/10.1016/s0140-6736(87)91752-1
39 https://doi.org/10.1056/nejm199812103392405
40 https://doi.org/10.1086/519219
41 https://doi.org/10.1097/00005176-199808000-00019
42 https://doi.org/10.1097/cnd.0b013e3181903126
43 https://doi.org/10.1111/j.1742-4658.2010.07876.x
44 https://doi.org/10.1126/science.182.4115.929
45 https://doi.org/10.1136/adc.2007.134957
46 https://doi.org/10.1136/adc.66.6.727
47 https://doi.org/10.1136/adc.76.6.555
48 https://doi.org/10.1146/annurev.physiol.64.082201.154705
49 https://doi.org/10.1161/01.cir.100.22.2248
50 https://doi.org/10.1177/000456329503200204
51 https://doi.org/10.1515/jpem.2009.22.12.1175
52 https://doi.org/10.1542/peds.2008-0586
53 schema:datePublished 2013-09
54 schema:datePublishedReg 2013-09-01
55 schema:description INTRODUCTION: Mitochondrial fatty acid β-oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with favorable prognosis following diagnosis. A description of the broad range of phenotypes resulting from these defects remains incomplete, and for this study, we sought to investigate the semiology at diagnosis in a country without a newborn screening program for FAODs. METHODS: Using a retrospective French multicentre study, we analyzed 187 children aged <6 years at diagnosis with FAOD confirmed by enzymatic and/or molecular analyses. Clinical and biological parameters at diagnosis were assessed to screen liver, heart, neurological, and muscle symptoms. Information concerning the long-term prognosis was also collected. RESULTS: Predominant hepatic symptoms were observed in 89 % of patients regardless of the underlying defect. The most frequent symptoms observed were hepatomegaly (92 %), increased blood alanine aminotransferase (ALAT) level (82 %), and steatosis (88 %). Other frequent features included Reye syndrome (49 %), increased gamma-glutamyltranspeptidase (GGT) (37 %), and liver failure (27 %). Extrahepatic features were often associated in the foreground. Hypoglycemia (75 %), neurological (64 %), muscle (61 %), or cardiac features (55 %) [as either cardiomyopathy (47 %) or arrhythmias (31 %)] were frequently documented. Hemodynamic events (41 %) were represented by shock (31 %) or sudden death (35 %). Hyperammonemia (73 %) and hyperlactacidemia (57 %) were the two main biochemical features. Total, very-long-chain acyl-CoA dehydrogenase (VLCADD), long-chain 3-hydroxyacylCoA dehydrogenase (LCHADD), and medium-chain acyl-CoA dehydrogenase (MCADD) deficiency mortality rates were 48 %, 60 %, 63 %, and 20 % respectively. CONCLUSION: This study presents clinical features of a large cohort of patients with FAODs in a country without neonatal screening for FAODs. Our results highlight liver as the main organ involved at diagnosis regardless of age at diagnosis, classical phenotype (i.e., cardiac, hepatic, or muscular), or enzyme deficiency. Although steatosis may be observed in various inherited metabolic defects, it is a reliable indicator of FAOD and should prompt systematic screening when the diagnosis is suspected. The poor long-term prognoses reported are a strong argument for inclusion of FAODs in newborn screening programs.
56 schema:genre research_article
57 schema:inLanguage en
58 schema:isAccessibleForFree false
59 schema:isPartOf N0d8e600db5c34e1a9c9af1ed28ecedf7
60 Nec2ae5801b9242518cf2615f621f71cb
61 sg:journal.1090550
62 schema:name Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients
63 schema:pagination 795-803
64 schema:productId N404e044b76cf4838b806452cc4d3b369
65 N738468fcdb384030a7b7a91f5cac5f4f
66 Nbbdbcccba0e24f15b3b6ee632a8640b7
67 Ncb69935c64c94ab1bff8778ebc9ae834
68 Nf92116c79c3c40fabca62232d2991a77
69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000459358
70 https://doi.org/10.1007/s10545-012-9542-6
71 schema:sdDatePublished 2019-04-10T18:13
72 schema:sdLicense https://scigraph.springernature.com/explorer/license/
73 schema:sdPublisher N535ffc95ce4d4014a8d2f5669903deca
74 schema:url http://link.springer.com/10.1007/s10545-012-9542-6
75 sgo:license sg:explorer/license/
76 sgo:sdDataset articles
77 rdf:type schema:ScholarlyArticle
78 N0129514c8a0b4f92ac24775fa2cf94a6 rdf:first sg:person.01277603545.74
79 rdf:rest Ne139f31367df40acab7c6cdc8d50fefd
80 N0537511ec48d43f3a932e1332d9fc528 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Retrospective Studies
82 rdf:type schema:DefinedTerm
83 N0d8e600db5c34e1a9c9af1ed28ecedf7 schema:issueNumber 5
84 rdf:type schema:PublicationIssue
85 N26051556da1b4b63adaaffd1b72c46a0 schema:name Neurologie Pédiatrique et Maladies Métaboliques–Hôpital Robert Debré–AP-HP, Paris, France
86 rdf:type schema:Organization
87 N404e044b76cf4838b806452cc4d3b369 schema:name dimensions_id
88 schema:value pub.1000459358
89 rdf:type schema:PropertyValue
90 N432b1b1f8d424f009a06e4623c532877 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Female
92 rdf:type schema:DefinedTerm
93 N4e036c9714934fd488581b508d799400 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Oxidation-Reduction
95 rdf:type schema:DefinedTerm
96 N521ea86fda63470988ec538aad6b5c4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Mitochondria
98 rdf:type schema:DefinedTerm
99 N528d06343bdd4def9179a514c1e44bd9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Lipid Metabolism, Inborn Errors
101 rdf:type schema:DefinedTerm
102 N535ffc95ce4d4014a8d2f5669903deca schema:name Springer Nature - SN SciGraph project
103 rdf:type schema:Organization
104 N5592cc52f63d4bd89c989aaad0d3550b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Infant
106 rdf:type schema:DefinedTerm
107 N608a68f70b9d4b02bd5732d126a47883 schema:name Biochimie Métabolique–Hôpital de Bicêtre–AP-HP, Le Kremlin Bicêtre, France
108 rdf:type schema:Organization
109 N66e4104e6f3045bf92ec096a8d19d549 schema:name Epidémiologie Clinique–Hôpital Robert Debré–AP-HP, Paris, France
110 rdf:type schema:Organization
111 N7248792823814129a95e8d05465e03aa rdf:first sg:person.0645743625.98
112 rdf:rest N0129514c8a0b4f92ac24775fa2cf94a6
113 N72b3cd27845a4ae0a908be0b41f3f9e3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Child, Preschool
115 rdf:type schema:DefinedTerm
116 N738468fcdb384030a7b7a91f5cac5f4f schema:name pubmed_id
117 schema:value 23053472
118 rdf:type schema:PropertyValue
119 N7914062fa0744bcea754c196fb122f09 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Male
121 rdf:type schema:DefinedTerm
122 N796e3bf665b244ac8e07637c373da589 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Acyl-CoA Dehydrogenase, Long-Chain
124 rdf:type schema:DefinedTerm
125 N7df94885c2564a25bf6fb7ac1b8ccffd rdf:first sg:person.01166002062.48
126 rdf:rest Nd0aa4dc7736e45eaa4cdaab356d2b6d4
127 N8020c008acbc407cb7bd3f5a0b49c48e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Infant, Newborn
129 rdf:type schema:DefinedTerm
130 N89e5a4fbc5d54047aa980e58c52ced14 schema:name Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal–CBPE–CHU Lyon, Bron, France
131 rdf:type schema:Organization
132 N90396143eebb4ead881b41acac1b1f41 schema:name Réanimation Pédiatrique–Hôpital Robert Debré–AP-HP, Paris, France
133 rdf:type schema:Organization
134 N90f09709ffbd43e1959688da0f230884 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Fatty Acids
136 rdf:type schema:DefinedTerm
137 Na38c53ee09424444922f83ca5f52c004 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Acyl-CoA Dehydrogenase
139 rdf:type schema:DefinedTerm
140 Na6932d34d6214110ac687644f70b1b5f rdf:first sg:person.0724754007.46
141 rdf:rest rdf:nil
142 Naef548759df846049b774a7f0415d2e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Humans
144 rdf:type schema:DefinedTerm
145 Nb2f0550580b248e8a3ddded6fc073720 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Child
147 rdf:type schema:DefinedTerm
148 Nbbdbcccba0e24f15b3b6ee632a8640b7 schema:name nlm_unique_id
149 schema:value 7910918
150 rdf:type schema:PropertyValue
151 Ncb69935c64c94ab1bff8778ebc9ae834 schema:name readcube_id
152 schema:value 022fab733d7b63cb707d4a0b1b8aa69330f5c21f52276d3e39924a0ba71b6ca4
153 rdf:type schema:PropertyValue
154 Nd0aa4dc7736e45eaa4cdaab356d2b6d4 rdf:first sg:person.01235750030.39
155 rdf:rest Nf6748a16e88a46d69da8a1253efedd14
156 Ndcdd9ba9c67049f7ae93a09012a101d6 schema:name Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants–CHU Toulouse, Toulouse, France
157 rdf:type schema:Organization
158 Ne139f31367df40acab7c6cdc8d50fefd rdf:first sg:person.01112743374.23
159 rdf:rest Na6932d34d6214110ac687644f70b1b5f
160 Nec2ae5801b9242518cf2615f621f71cb schema:volumeNumber 36
161 rdf:type schema:PublicationVolume
162 Nf6748a16e88a46d69da8a1253efedd14 rdf:first sg:person.01122127267.69
163 rdf:rest N7248792823814129a95e8d05465e03aa
164 Nf92116c79c3c40fabca62232d2991a77 schema:name doi
165 schema:value 10.1007/s10545-012-9542-6
166 rdf:type schema:PropertyValue
167 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
168 schema:name Medical and Health Sciences
169 rdf:type schema:DefinedTerm
170 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
171 schema:name Clinical Sciences
172 rdf:type schema:DefinedTerm
173 sg:journal.1090550 schema:issn 0141-8955
174 1573-2665
175 schema:name Journal of Inherited Metabolic Disease
176 rdf:type schema:Periodical
177 sg:person.01112743374.23 schema:affiliation N89e5a4fbc5d54047aa980e58c52ced14
178 schema:familyName Vianey-Saban
179 schema:givenName Christine
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112743374.23
181 rdf:type schema:Person
182 sg:person.01122127267.69 schema:affiliation Ndcdd9ba9c67049f7ae93a09012a101d6
183 schema:familyName Broué
184 schema:givenName Pierre
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122127267.69
186 rdf:type schema:Person
187 sg:person.01166002062.48 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
188 schema:familyName Baruteau
189 schema:givenName Julien
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166002062.48
191 rdf:type schema:Person
192 sg:person.01235750030.39 schema:affiliation N90396143eebb4ead881b41acac1b1f41
193 schema:familyName Sachs
194 schema:givenName Philippe
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235750030.39
196 rdf:type schema:Person
197 sg:person.01277603545.74 schema:affiliation N66e4104e6f3045bf92ec096a8d19d549
198 schema:familyName Abdoul
199 schema:givenName Hendy
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277603545.74
201 rdf:type schema:Person
202 sg:person.0645743625.98 schema:affiliation N608a68f70b9d4b02bd5732d126a47883
203 schema:familyName Brivet
204 schema:givenName Michèle
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645743625.98
206 rdf:type schema:Person
207 sg:person.0724754007.46 schema:affiliation N26051556da1b4b63adaaffd1b72c46a0
208 schema:familyName Ogier de Baulny
209 schema:givenName Hélène
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46
211 rdf:type schema:Person
212 sg:pub.10.1007/3-540-28962-3_16 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013743583
213 https://doi.org/10.1007/3-540-28962-3_16
214 rdf:type schema:CreativeWork
215 sg:pub.10.1007/978-3-540-28785-8_13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015529034
216 https://doi.org/10.1007/978-3-540-28785-8_13
217 rdf:type schema:CreativeWork
218 sg:pub.10.1007/bf02072051 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001766271
219 https://doi.org/10.1007/bf02072051
220 rdf:type schema:CreativeWork
221 sg:pub.10.1007/s00431-003-1246-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001974473
222 https://doi.org/10.1007/s00431-003-1246-3
223 rdf:type schema:CreativeWork
224 sg:pub.10.1007/s10545-008-0990-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1026862458
225 https://doi.org/10.1007/s10545-008-0990-y
226 rdf:type schema:CreativeWork
227 sg:pub.10.1007/s10545-009-1125-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042389789
228 https://doi.org/10.1007/s10545-009-1125-9
229 rdf:type schema:CreativeWork
230 sg:pub.10.1007/s10545-009-9001-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003206161
231 https://doi.org/10.1007/s10545-009-9001-1
232 rdf:type schema:CreativeWork
233 sg:pub.10.1023/a:1005556207210 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002411928
234 https://doi.org/10.1023/a:1005556207210
235 rdf:type schema:CreativeWork
236 sg:pub.10.1023/a:1024429032116 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049151183
237 https://doi.org/10.1023/a:1024429032116
238 rdf:type schema:CreativeWork
239 sg:pub.10.1186/1750-1172-6-44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021779112
240 https://doi.org/10.1186/1750-1172-6-44
241 rdf:type schema:CreativeWork
242 sg:pub.10.1203/00006450-198210000-00015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037113555
243 https://doi.org/10.1203/00006450-198210000-00015
244 rdf:type schema:CreativeWork
245 https://app.dimensions.ai/details/publication/pub.1077641307 schema:CreativeWork
246 https://doi.org/10.1002/hep.1840060608 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019054094
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1002/hep.22284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032705468
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1007/s10545-009-1125-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042389789
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1007/s10545-009-9001-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003206161
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1016/0887-8994(91)90009-a schema:sameAs https://app.dimensions.ai/details/publication/pub.1025426591
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1016/j.arcped.2011.10.025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038430983
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1016/j.spen.2008.05.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000902382
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1016/s0022-3476(98)70385-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029816678
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1016/s0140-6736(87)91752-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045399293
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1056/nejm199812103392405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046775887
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1086/519219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058792130
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1097/00005176-199808000-00019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060201278
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1097/cnd.0b013e3181903126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029823922
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1111/j.1742-4658.2010.07876.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1003282537
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1126/science.182.4115.929 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062508612
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1136/adc.2007.134957 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003654963
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1136/adc.66.6.727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042858004
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1136/adc.76.6.555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035041794
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1146/annurev.physiol.64.082201.154705 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032552763
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1161/01.cir.100.22.2248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029311097
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1177/000456329503200204 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044927323
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1515/jpem.2009.22.12.1175 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028376583
289 rdf:type schema:CreativeWork
290 https://doi.org/10.1542/peds.2008-0586 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067826983
291 rdf:type schema:CreativeWork
292 https://www.grid.ac/institutes/grid.42399.35 schema:alternateName Centre Hospitalier Universitaire de Bordeaux
293 schema:name Hépatogastroentérologie Pédiatrique et Maladies Métaboliques, 330 avenue de Grande Bretagne, Hôpital des Enfants, 31059, Toulouse cedex 9, France
294 Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants–CHU Toulouse, Toulouse, France
295 rdf:type schema:Organization
 




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


...