Recommendations for the management of tyrosinaemia type 1 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter

ABSTRACT

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management. More... »

PAGES

8

References to SciGraph publications

  • 2003-07. Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-06. Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-04. Hyperinsulinism in tyrosinaemia type I in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-06. Clinical practice in EUROPEAN JOURNAL OF PEDIATRICS
  • 2012. Disorders of Tyrosine Metabolism in INBORN METABOLIC DISEASES
  • 2006. Disorders of Tyrosine Degradation in PHYSICIAN’S GUIDE TO THE TREATMENT AND FOLLOW-UP OF METABOLIC DISEASES
  • 2011. Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2
  • 2012-09. Single dose NTBC-treatment of hereditary tyrosinemia type I in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-12. Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-03. Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-11. Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-02. Cardiomyopathy in tyrosinaemia type I is common but usually benign in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-09. Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1998-08. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-02. NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-05. Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1 in EUROPEAN JOURNAL OF PEDIATRICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1750-1172-8-8

    DOI

    http://dx.doi.org/10.1186/1750-1172-8-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003508528

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23311542


    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": "Bone Density", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cyclohexanones", 
            "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, Newborn", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Liver Transplantation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neonatal Screening", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nitrobenzoates", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pregnancy", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Psychometrics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Tyrosinemias", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Queen Fabiola Children's University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412209.c", 
              "name": [
                "Nutrition and Metabolism Unit, Department of Pediatrics, University Children\u2019s Hospital Queen Fabiola, Brussels, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Laet", 
            "givenName": "Corinne", 
            "id": "sg:person.014504207714.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014504207714.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Division of Metabolism, Department of Pediatric Medicine, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, 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"
          }, 
          {
            "affiliation": {
              "alternateName": "University College London", 
              "id": "https://www.grid.ac/institutes/grid.83440.3b", 
              "name": [
                "UCL Institute of Child Health, 30 Guilford Street, 1EH, LONDON, WC1N, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Leonard", 
            "givenName": "James V", 
            "id": "sg:person.01257716101.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257716101.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Birmingham Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.415246.0", 
              "name": [
                "The Liver Unit, Birmingham Children\u2019s Hospital, B4 6NH, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McKiernan", 
            "givenName": "Patrick", 
            "id": "sg:person.0734320302.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734320302.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire Sainte-Justine", 
              "id": "https://www.grid.ac/institutes/grid.411418.9", 
              "name": [
                "Pediatrics Department, CHU Sainte-Justine, 3175 Cote St Catherine, H3T 1C5, Montreal Quebec, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mitchell", 
            "givenName": "Grant", 
            "id": "sg:person.07355072242.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07355072242.53"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Bambino Ges\u00f9 Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414125.7", 
              "name": [
                "Unit of Hepatobiliary Imaging, Department of Radiology, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Monti", 
            "givenName": "Lidia", 
            "id": "sg:person.01257742745.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257742745.18"
            ], 
            "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, H\u00f4pital Robert Debr\u00e9, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Baulny", 
            "givenName": "H\u00e9l\u00e8ne Ogier", 
            "id": "sg:person.0724754007.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari Germans Trias i Pujol", 
              "id": "https://www.grid.ac/institutes/grid.411438.b", 
              "name": [
                "Department of Paediatrics, Section of Paediatric Nephrology, Genetics and Metabolism, University Hospital \u201cGermans Trias i Pujol\u201d, Badalona. Universitat Aut\u00f2noma de Barcelona, Catalonia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pintos-Morell", 
            "givenName": "Guillem", 
            "id": "sg:person.0657314073.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657314073.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Ute Spiekerkoetter, Department of Pediatric and Adolescent Medicine, University Children\u2019s Hospital, 79106, Freiburg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Spiekerk\u00f6tter", 
            "givenName": "Ute", 
            "id": "sg:person.0630342404.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630342404.46"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1023/a:1005666426079", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000690199", 
              "https://doi.org/10.1023/a:1005666426079"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1090-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001003434", 
              "https://doi.org/10.1007/s00431-009-1090-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1090-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001003434", 
              "https://doi.org/10.1007/s00431-009-1090-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1090-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001003434", 
              "https://doi.org/10.1007/s00431-009-1090-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-012-9450-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007352881", 
              "https://doi.org/10.1007/s10545-012-9450-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2010.11.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010295835"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1469-8749.2011.04048.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011837495"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jchromb.2009.03.014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012658808"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1046/j.0306-5251.2001.01421.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014893231"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-006-0203-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015175348", 
              "https://doi.org/10.1007/s10545-006-0203-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1007/s10545-006-0203-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015175348"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-011-1419-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015550330", 
              "https://doi.org/10.1007/s00431-011-1419-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1517/14656566.9.7.1229", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016633664"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-011-9429-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016781017", 
              "https://doi.org/10.1007/s10545-011-9429-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2011.02.017", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017647470"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1442-200x.2011.03427.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017871493"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/3-540-28962-3_6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019729186", 
              "https://doi.org/10.1007/3-540-28962-3_6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-008-0807-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020255890", 
              "https://doi.org/10.1007/s10545-008-0807-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1365-277x.2011.01215.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020297851"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-008-0793-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021533102", 
              "https://doi.org/10.1007/s10545-008-0793-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1651-2227.2010.01900.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021580752"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/8904_2011_88", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021627171", 
              "https://doi.org/10.1007/8904_2011_88"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1024011110116", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024824590", 
              "https://doi.org/10.1023/a:1024011110116"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-005-5517-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026166709", 
              "https://doi.org/10.1007/s10545-005-5517-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1005410820201", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027020476", 
              "https://doi.org/10.1023/a:1005410820201"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.taap.2006.01.015", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028758613"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1651-2227.2010.01901.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032015173"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1651-2227.2010.01901.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032015173"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.anpedi.2010.03.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034977571"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1651-2227.2003.tb02518.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035985421"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1651-2227.2003.tb02518.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035985421"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-3-642-15720-2_18", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037953007", 
              "https://doi.org/10.1007/978-3-642-15720-2_18"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10545-011-9394-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039892308", 
              "https://doi.org/10.1007/s10545-011-9394-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1148/radiol.2463070432", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042428509"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1074-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045622701", 
              "https://doi.org/10.1007/s00431-009-1074-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1074-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045622701", 
              "https://doi.org/10.1007/s00431-009-1074-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00431-009-1074-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045622701", 
              "https://doi.org/10.1007/s00431-009-1074-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199408113310603", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045813857"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0140-6736(92)92685-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049047459"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0140-6736(92)92685-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049047459"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2012.05.022", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049095213"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.mpg.0000228112.29359.f8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049102878"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.mpg.0000228112.29359.f8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049102878"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/hep.1840200513", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049487690"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050548281"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2006.07.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050728073"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm198305263082105", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052741371"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1021/ac202695h", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1055002266"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1259/bjr/33156643", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064569106"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078746020", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2013-12", 
        "datePublishedReg": "2013-12-01", 
        "description": "The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/1750-1172-8-8", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1036535", 
            "issn": [
              "1750-1172"
            ], 
            "name": "Orphanet Journal of Rare Diseases", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "8"
          }
        ], 
        "name": "Recommendations for the management of tyrosinaemia type 1", 
        "pagination": "8", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "10b6df13573fb70bd614bf4eadcea65cc53b6b3acc2711dced0979a41577cd10"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "23311542"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101266602"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/1750-1172-8-8"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1003508528"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/1750-1172-8-8", 
          "https://app.dimensions.ai/details/publication/pub.1003508528"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T15:50", 
        "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_8664_00000510.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2F1750-1172-8-8"
      }
    ]
     

    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.10.1186/1750-1172-8-8'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-8'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-8'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-8'


     

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

    330 TRIPLES      21 PREDICATES      82 URIs      32 LITERALS      20 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/1750-1172-8-8 schema:about N00dc87a9623541a39b4b61782ed2aafd
    2 N124c0296c81c43f7a856f65334f69577
    3 N27ac3a8a9fb04189a60c159944faa157
    4 N3b4a49f956934d778b12cf4b68bba993
    5 N4045c6936dd44e97b94e0bcb62099e7c
    6 N483245b0e77946fd8e7d8f8824d3a591
    7 N51190e24e3bc4aa3b53ad3b05fa7baf7
    8 N7c940172943a4d54a11649ccb29c1165
    9 N841ad04606b0456c817e9f304866991a
    10 Nc31a62429dea4da5a90334f85e4291cb
    11 Nf080f0511aa34dc9a23309af3720fa1b
    12 anzsrc-for:11
    13 anzsrc-for:1103
    14 schema:author N377756cf034f4e47bc083cacab704f07
    15 schema:citation sg:pub.10.1007/3-540-28962-3_6
    16 sg:pub.10.1007/8904_2011_88
    17 sg:pub.10.1007/978-3-642-15720-2_18
    18 sg:pub.10.1007/s00431-009-1074-1
    19 sg:pub.10.1007/s00431-009-1090-1
    20 sg:pub.10.1007/s00431-011-1419-4
    21 sg:pub.10.1007/s10545-005-5517-1
    22 sg:pub.10.1007/s10545-006-0203-5
    23 sg:pub.10.1007/s10545-008-0793-1
    24 sg:pub.10.1007/s10545-008-0807-z
    25 sg:pub.10.1007/s10545-011-9394-5
    26 sg:pub.10.1007/s10545-011-9429-y
    27 sg:pub.10.1007/s10545-012-9450-9
    28 sg:pub.10.1023/a:1005410820201
    29 sg:pub.10.1023/a:1005666426079
    30 sg:pub.10.1023/a:1024011110116
    31 https://app.dimensions.ai/details/publication/pub.1078746020
    32 https://doi.org/10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-#
    33 https://doi.org/10.1002/hep.1840200513
    34 https://doi.org/10.1007/s10545-006-0203-5
    35 https://doi.org/10.1016/0140-6736(92)92685-9
    36 https://doi.org/10.1016/j.anpedi.2010.03.005
    37 https://doi.org/10.1016/j.jchromb.2009.03.014
    38 https://doi.org/10.1016/j.taap.2006.01.015
    39 https://doi.org/10.1016/j.ymgme.2006.07.009
    40 https://doi.org/10.1016/j.ymgme.2010.11.003
    41 https://doi.org/10.1016/j.ymgme.2011.02.017
    42 https://doi.org/10.1016/j.ymgme.2012.05.022
    43 https://doi.org/10.1021/ac202695h
    44 https://doi.org/10.1046/j.0306-5251.2001.01421.x
    45 https://doi.org/10.1056/nejm198305263082105
    46 https://doi.org/10.1056/nejm199408113310603
    47 https://doi.org/10.1097/01.mpg.0000228112.29359.f8
    48 https://doi.org/10.1111/j.1365-277x.2011.01215.x
    49 https://doi.org/10.1111/j.1442-200x.2011.03427.x
    50 https://doi.org/10.1111/j.1469-8749.2011.04048.x
    51 https://doi.org/10.1111/j.1651-2227.2003.tb02518.x
    52 https://doi.org/10.1111/j.1651-2227.2010.01900.x
    53 https://doi.org/10.1111/j.1651-2227.2010.01901.x
    54 https://doi.org/10.1148/radiol.2463070432
    55 https://doi.org/10.1259/bjr/33156643
    56 https://doi.org/10.1517/14656566.9.7.1229
    57 schema:datePublished 2013-12
    58 schema:datePublishedReg 2013-12-01
    59 schema:description The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.
    60 schema:genre research_article
    61 schema:inLanguage en
    62 schema:isAccessibleForFree true
    63 schema:isPartOf Nad1e0495ac3c4db9a5fc31566de3e605
    64 Ncf32804e109048ae915ddb648eee0d1a
    65 sg:journal.1036535
    66 schema:name Recommendations for the management of tyrosinaemia type 1
    67 schema:pagination 8
    68 schema:productId N29dc89b4d9c74337b19c88943b8166ad
    69 N805e84a3f51f463fb6d71edf695a6c2d
    70 N96900ab23aa3452f879764351bd77e3a
    71 Na743548895b6453781963d4078e76483
    72 Ne02d9d82bc8a475baefe600e8ff5f7a2
    73 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003508528
    74 https://doi.org/10.1186/1750-1172-8-8
    75 schema:sdDatePublished 2019-04-10T15:50
    76 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    77 schema:sdPublisher N41bbc39a10aa4a7eb6c34cddc753414d
    78 schema:url http://link.springer.com/10.1186%2F1750-1172-8-8
    79 sgo:license sg:explorer/license/
    80 sgo:sdDataset articles
    81 rdf:type schema:ScholarlyArticle
    82 N00dc87a9623541a39b4b61782ed2aafd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    83 schema:name Liver Transplantation
    84 rdf:type schema:DefinedTerm
    85 N09d8aaa09bd5408387a0a7a95c1f5a45 rdf:first sg:person.0734320302.01
    86 rdf:rest Na104d05a695a4886b749e9f47db7800c
    87 N124c0296c81c43f7a856f65334f69577 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    88 schema:name Cyclohexanones
    89 rdf:type schema:DefinedTerm
    90 N27ac3a8a9fb04189a60c159944faa157 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    91 schema:name Pregnancy
    92 rdf:type schema:DefinedTerm
    93 N29dc89b4d9c74337b19c88943b8166ad schema:name nlm_unique_id
    94 schema:value 101266602
    95 rdf:type schema:PropertyValue
    96 N377756cf034f4e47bc083cacab704f07 rdf:first sg:person.014504207714.55
    97 rdf:rest Ne2f4403e132949548862d8c23cbb58cd
    98 N3b4a49f956934d778b12cf4b68bba993 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    99 schema:name Psychometrics
    100 rdf:type schema:DefinedTerm
    101 N4045c6936dd44e97b94e0bcb62099e7c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    102 schema:name Nitrobenzoates
    103 rdf:type schema:DefinedTerm
    104 N41bbc39a10aa4a7eb6c34cddc753414d schema:name Springer Nature - SN SciGraph project
    105 rdf:type schema:Organization
    106 N483245b0e77946fd8e7d8f8824d3a591 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    107 schema:name Infant, Newborn
    108 rdf:type schema:DefinedTerm
    109 N4fb68784bc6e4c55a4174985ed045f11 rdf:first sg:person.0657314073.05
    110 rdf:rest N90086fe6923545738c034042cb7cfcd4
    111 N51190e24e3bc4aa3b53ad3b05fa7baf7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Neonatal Screening
    113 rdf:type schema:DefinedTerm
    114 N67a39d561258468498607c68ac0a4137 rdf:first sg:person.0724754007.46
    115 rdf:rest N4fb68784bc6e4c55a4174985ed045f11
    116 N7c940172943a4d54a11649ccb29c1165 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    117 schema:name Bone Density
    118 rdf:type schema:DefinedTerm
    119 N805e84a3f51f463fb6d71edf695a6c2d schema:name dimensions_id
    120 schema:value pub.1003508528
    121 rdf:type schema:PropertyValue
    122 N841ad04606b0456c817e9f304866991a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    123 schema:name Female
    124 rdf:type schema:DefinedTerm
    125 N90086fe6923545738c034042cb7cfcd4 rdf:first sg:person.0630342404.46
    126 rdf:rest rdf:nil
    127 N96900ab23aa3452f879764351bd77e3a schema:name readcube_id
    128 schema:value 10b6df13573fb70bd614bf4eadcea65cc53b6b3acc2711dced0979a41577cd10
    129 rdf:type schema:PropertyValue
    130 Na104d05a695a4886b749e9f47db7800c rdf:first sg:person.07355072242.53
    131 rdf:rest Nea25d791ec1b4087a6180455093d5c48
    132 Na743548895b6453781963d4078e76483 schema:name pubmed_id
    133 schema:value 23311542
    134 rdf:type schema:PropertyValue
    135 Na920cf747e3e408b8a3314351d4401c1 rdf:first sg:person.01257716101.62
    136 rdf:rest N09d8aaa09bd5408387a0a7a95c1f5a45
    137 Nad1e0495ac3c4db9a5fc31566de3e605 schema:volumeNumber 8
    138 rdf:type schema:PublicationVolume
    139 Nc31a62429dea4da5a90334f85e4291cb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    140 schema:name Humans
    141 rdf:type schema:DefinedTerm
    142 Ncf32804e109048ae915ddb648eee0d1a schema:issueNumber 1
    143 rdf:type schema:PublicationIssue
    144 Nd40ffc2cd1e248aab055b870651be8bc schema:name Ute Spiekerkoetter, Department of Pediatric and Adolescent Medicine, University Children’s Hospital, 79106, Freiburg, Germany
    145 rdf:type schema:Organization
    146 Ne02d9d82bc8a475baefe600e8ff5f7a2 schema:name doi
    147 schema:value 10.1186/1750-1172-8-8
    148 rdf:type schema:PropertyValue
    149 Ne2f4403e132949548862d8c23cbb58cd rdf:first sg:person.0747024472.82
    150 rdf:rest Na920cf747e3e408b8a3314351d4401c1
    151 Nea25d791ec1b4087a6180455093d5c48 rdf:first sg:person.01257742745.18
    152 rdf:rest N67a39d561258468498607c68ac0a4137
    153 Nf080f0511aa34dc9a23309af3720fa1b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    154 schema:name Tyrosinemias
    155 rdf:type schema:DefinedTerm
    156 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    157 schema:name Medical and Health Sciences
    158 rdf:type schema:DefinedTerm
    159 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
    160 schema:name Clinical Sciences
    161 rdf:type schema:DefinedTerm
    162 sg:journal.1036535 schema:issn 1750-1172
    163 schema:name Orphanet Journal of Rare Diseases
    164 rdf:type schema:Periodical
    165 sg:person.01257716101.62 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
    166 schema:familyName Leonard
    167 schema:givenName James V
    168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257716101.62
    169 rdf:type schema:Person
    170 sg:person.01257742745.18 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    171 schema:familyName Monti
    172 schema:givenName Lidia
    173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257742745.18
    174 rdf:type schema:Person
    175 sg:person.014504207714.55 schema:affiliation https://www.grid.ac/institutes/grid.412209.c
    176 schema:familyName de Laet
    177 schema:givenName Corinne
    178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014504207714.55
    179 rdf:type schema:Person
    180 sg:person.0630342404.46 schema:affiliation Nd40ffc2cd1e248aab055b870651be8bc
    181 schema:familyName Spiekerkötter
    182 schema:givenName Ute
    183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630342404.46
    184 rdf:type schema:Person
    185 sg:person.0657314073.05 schema:affiliation https://www.grid.ac/institutes/grid.411438.b
    186 schema:familyName Pintos-Morell
    187 schema:givenName Guillem
    188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657314073.05
    189 rdf:type schema:Person
    190 sg:person.0724754007.46 schema:affiliation https://www.grid.ac/institutes/grid.413235.2
    191 schema:familyName de Baulny
    192 schema:givenName Hélène Ogier
    193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46
    194 rdf:type schema:Person
    195 sg:person.0734320302.01 schema:affiliation https://www.grid.ac/institutes/grid.415246.0
    196 schema:familyName McKiernan
    197 schema:givenName Patrick
    198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734320302.01
    199 rdf:type schema:Person
    200 sg:person.07355072242.53 schema:affiliation https://www.grid.ac/institutes/grid.411418.9
    201 schema:familyName Mitchell
    202 schema:givenName Grant
    203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07355072242.53
    204 rdf:type schema:Person
    205 sg:person.0747024472.82 schema:affiliation https://www.grid.ac/institutes/grid.414125.7
    206 schema:familyName Dionisi-Vici
    207 schema:givenName Carlo
    208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747024472.82
    209 rdf:type schema:Person
    210 sg:pub.10.1007/3-540-28962-3_6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019729186
    211 https://doi.org/10.1007/3-540-28962-3_6
    212 rdf:type schema:CreativeWork
    213 sg:pub.10.1007/8904_2011_88 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021627171
    214 https://doi.org/10.1007/8904_2011_88
    215 rdf:type schema:CreativeWork
    216 sg:pub.10.1007/978-3-642-15720-2_18 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037953007
    217 https://doi.org/10.1007/978-3-642-15720-2_18
    218 rdf:type schema:CreativeWork
    219 sg:pub.10.1007/s00431-009-1074-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045622701
    220 https://doi.org/10.1007/s00431-009-1074-1
    221 rdf:type schema:CreativeWork
    222 sg:pub.10.1007/s00431-009-1090-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001003434
    223 https://doi.org/10.1007/s00431-009-1090-1
    224 rdf:type schema:CreativeWork
    225 sg:pub.10.1007/s00431-011-1419-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015550330
    226 https://doi.org/10.1007/s00431-011-1419-4
    227 rdf:type schema:CreativeWork
    228 sg:pub.10.1007/s10545-005-5517-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026166709
    229 https://doi.org/10.1007/s10545-005-5517-1
    230 rdf:type schema:CreativeWork
    231 sg:pub.10.1007/s10545-006-0203-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015175348
    232 https://doi.org/10.1007/s10545-006-0203-5
    233 rdf:type schema:CreativeWork
    234 sg:pub.10.1007/s10545-008-0793-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021533102
    235 https://doi.org/10.1007/s10545-008-0793-1
    236 rdf:type schema:CreativeWork
    237 sg:pub.10.1007/s10545-008-0807-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1020255890
    238 https://doi.org/10.1007/s10545-008-0807-z
    239 rdf:type schema:CreativeWork
    240 sg:pub.10.1007/s10545-011-9394-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039892308
    241 https://doi.org/10.1007/s10545-011-9394-5
    242 rdf:type schema:CreativeWork
    243 sg:pub.10.1007/s10545-011-9429-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1016781017
    244 https://doi.org/10.1007/s10545-011-9429-y
    245 rdf:type schema:CreativeWork
    246 sg:pub.10.1007/s10545-012-9450-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007352881
    247 https://doi.org/10.1007/s10545-012-9450-9
    248 rdf:type schema:CreativeWork
    249 sg:pub.10.1023/a:1005410820201 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027020476
    250 https://doi.org/10.1023/a:1005410820201
    251 rdf:type schema:CreativeWork
    252 sg:pub.10.1023/a:1005666426079 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000690199
    253 https://doi.org/10.1023/a:1005666426079
    254 rdf:type schema:CreativeWork
    255 sg:pub.10.1023/a:1024011110116 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024824590
    256 https://doi.org/10.1023/a:1024011110116
    257 rdf:type schema:CreativeWork
    258 https://app.dimensions.ai/details/publication/pub.1078746020 schema:CreativeWork
    259 https://doi.org/10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>3.0.co;2-# schema:sameAs https://app.dimensions.ai/details/publication/pub.1050548281
    260 rdf:type schema:CreativeWork
    261 https://doi.org/10.1002/hep.1840200513 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049487690
    262 rdf:type schema:CreativeWork
    263 https://doi.org/10.1007/s10545-006-0203-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015175348
    264 rdf:type schema:CreativeWork
    265 https://doi.org/10.1016/0140-6736(92)92685-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049047459
    266 rdf:type schema:CreativeWork
    267 https://doi.org/10.1016/j.anpedi.2010.03.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034977571
    268 rdf:type schema:CreativeWork
    269 https://doi.org/10.1016/j.jchromb.2009.03.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012658808
    270 rdf:type schema:CreativeWork
    271 https://doi.org/10.1016/j.taap.2006.01.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028758613
    272 rdf:type schema:CreativeWork
    273 https://doi.org/10.1016/j.ymgme.2006.07.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728073
    274 rdf:type schema:CreativeWork
    275 https://doi.org/10.1016/j.ymgme.2010.11.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010295835
    276 rdf:type schema:CreativeWork
    277 https://doi.org/10.1016/j.ymgme.2011.02.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017647470
    278 rdf:type schema:CreativeWork
    279 https://doi.org/10.1016/j.ymgme.2012.05.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049095213
    280 rdf:type schema:CreativeWork
    281 https://doi.org/10.1021/ac202695h schema:sameAs https://app.dimensions.ai/details/publication/pub.1055002266
    282 rdf:type schema:CreativeWork
    283 https://doi.org/10.1046/j.0306-5251.2001.01421.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1014893231
    284 rdf:type schema:CreativeWork
    285 https://doi.org/10.1056/nejm198305263082105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052741371
    286 rdf:type schema:CreativeWork
    287 https://doi.org/10.1056/nejm199408113310603 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045813857
    288 rdf:type schema:CreativeWork
    289 https://doi.org/10.1097/01.mpg.0000228112.29359.f8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049102878
    290 rdf:type schema:CreativeWork
    291 https://doi.org/10.1111/j.1365-277x.2011.01215.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1020297851
    292 rdf:type schema:CreativeWork
    293 https://doi.org/10.1111/j.1442-200x.2011.03427.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1017871493
    294 rdf:type schema:CreativeWork
    295 https://doi.org/10.1111/j.1469-8749.2011.04048.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1011837495
    296 rdf:type schema:CreativeWork
    297 https://doi.org/10.1111/j.1651-2227.2003.tb02518.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035985421
    298 rdf:type schema:CreativeWork
    299 https://doi.org/10.1111/j.1651-2227.2010.01900.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021580752
    300 rdf:type schema:CreativeWork
    301 https://doi.org/10.1111/j.1651-2227.2010.01901.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032015173
    302 rdf:type schema:CreativeWork
    303 https://doi.org/10.1148/radiol.2463070432 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042428509
    304 rdf:type schema:CreativeWork
    305 https://doi.org/10.1259/bjr/33156643 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064569106
    306 rdf:type schema:CreativeWork
    307 https://doi.org/10.1517/14656566.9.7.1229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016633664
    308 rdf:type schema:CreativeWork
    309 https://www.grid.ac/institutes/grid.411418.9 schema:alternateName Centre Hospitalier Universitaire Sainte-Justine
    310 schema:name Pediatrics Department, CHU Sainte-Justine, 3175 Cote St Catherine, H3T 1C5, Montreal Quebec, Canada
    311 rdf:type schema:Organization
    312 https://www.grid.ac/institutes/grid.411438.b schema:alternateName Hospital Universitari Germans Trias i Pujol
    313 schema:name Department of Paediatrics, Section of Paediatric Nephrology, Genetics and Metabolism, University Hospital “Germans Trias i Pujol”, Badalona. Universitat Autònoma de Barcelona, Catalonia, Spain
    314 rdf:type schema:Organization
    315 https://www.grid.ac/institutes/grid.412209.c schema:alternateName Queen Fabiola Children's University Hospital
    316 schema:name Nutrition and Metabolism Unit, Department of Pediatrics, University Children’s Hospital Queen Fabiola, Brussels, Belgium
    317 rdf:type schema:Organization
    318 https://www.grid.ac/institutes/grid.413235.2 schema:alternateName Hôpital Robert Debré
    319 schema:name Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, Paris, France
    320 rdf:type schema:Organization
    321 https://www.grid.ac/institutes/grid.414125.7 schema:alternateName Bambino Gesù Children's Hospital
    322 schema:name Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
    323 Unit of Hepatobiliary Imaging, Department of Radiology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy
    324 rdf:type schema:Organization
    325 https://www.grid.ac/institutes/grid.415246.0 schema:alternateName Birmingham Children's Hospital
    326 schema:name The Liver Unit, Birmingham Children’s Hospital, B4 6NH, Birmingham, UK
    327 rdf:type schema:Organization
    328 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
    329 schema:name UCL Institute of Child Health, 30 Guilford Street, 1EH, LONDON, WC1N, UK
    330 rdf:type schema:Organization
     




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


    ...