An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-03

AUTHORS

Fady Hannah-Shmouni, Constantine A. Stratakis

ABSTRACT

Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year. Several pitfalls in the genetic diagnosis of patients with PAI exist. In this review, we provide an in-depth discussion and overview on the inborn errors of metabolism manifesting with PAI, including genetic diagnosis, genotype-phenotype relationships and counseling of patients and their families with a focus on various enzymatic deficiencies of steroidogenesis. More... »

PAGES

53-67

References to SciGraph publications

  • 2017-11. Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians in GENETICS IN MEDICINE
  • 1996-11. Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency in HUMAN GENETICS
  • 2016-01. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets in GENETICS IN MEDICINE
  • 2009-12. A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form in BMC MEDICAL GENETICS
  • 2018-12. Consensus clinical management guidelines for Niemann-Pick disease type C in ORPHANET JOURNAL OF RARE DISEASES
  • 1984-11. Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger in EUROPEAN JOURNAL OF PEDIATRICS
  • 1998-02. Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations in HUMAN GENETICS
  • 1995-08. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population in HUMAN GENETICS
  • 1923-12. Bronzekrankheit und sklerosierende Encephalomyelitis in EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
  • 1987-07. Evidence of polyglandular involvement in Niemann-Pick disease type B in EUROPEAN JOURNAL OF PEDIATRICS
  • 1998-07. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 1993-02. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters in NATURE
  • 2017-01. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation in GENETICS IN MEDICINE
  • 1992-11. Wolman's disease: Ultrasonographic and computed tomographic findings in PEDIATRIC RADIOLOGY
  • 2014-12. High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-10. X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2012-12. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management in ORPHANET JOURNAL OF RARE DISEASES
  • 2004-03. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s11154-018-9447-2

    DOI

    http://dx.doi.org/10.1007/s11154-018-9447-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1105172463

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29956047


    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/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adrenal Insufficiency", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Metabolism, Inborn Errors", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "National Institute of Child Health and Human Development", 
              "id": "https://www.grid.ac/institutes/grid.420089.7", 
              "name": [
                "Section on Endocrinology & Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Dr., MSC1103, 20892, Bethesda, MD, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hannah-Shmouni", 
            "givenName": "Fady", 
            "id": "sg:person.01315132137.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315132137.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Institute of Child Health and Human Development", 
              "id": "https://www.grid.ac/institutes/grid.420089.7", 
              "name": [
                "Section on Endocrinology & Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Dr., MSC1103, 20892, Bethesda, MD, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stratakis", 
            "givenName": "Constantine A.", 
            "id": "sg:person.011151216517.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011151216517.08"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1111/j.1750-3639.2006.tb00561.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000796273"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/mgme.1999.2904", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000807297"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4158/ep10095.ra", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006530417"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004310050902", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007909588", 
              "https://doi.org/10.1007/s004310050902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1300", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008239703", 
              "https://doi.org/10.1038/ng1300"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1300", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008239703", 
              "https://doi.org/10.1038/ng1300"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.83.9.2841", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008550574"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2015.25", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009690156", 
              "https://doi.org/10.1038/gim.2015.25"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(95)70250-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010084535"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2016.03.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010331875"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-11-0019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011229717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-11-0019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011229717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-11-0019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011229717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-11-0019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011229717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-11-0019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011229717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2015-1710", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011995472"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf01835678", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012895332", 
              "https://doi.org/10.1007/bf01835678"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jaad.2011.09.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013892982"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2015-3250", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014272995"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.92.23.10796", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014283236"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1742-1241.2005.00620.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014316277"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1742-1241.2005.00620.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014316277"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2011-0640", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014832680"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2008.09.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015477018"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2016.68", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015782267", 
              "https://doi.org/10.1038/gim.2016.68"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2350-10-72", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017074380", 
              "https://doi.org/10.1186/1471-2350-10-72"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.prp.2003.11.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017093668"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf02013008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017302813", 
              "https://doi.org/10.1007/bf02013008"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf02013008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017302813", 
              "https://doi.org/10.1007/bf02013008"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0378-1135(83)90077-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018169004"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0378-1135(83)90077-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018169004"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejmg.2010.10.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018408612"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci115897", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021097824"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1005679", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021802962"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050672", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022365604", 
              "https://doi.org/10.1007/s004390050672"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050672", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022365604", 
              "https://doi.org/10.1007/s004390050672"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejmg.2015.04.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022383339"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejmg.2015.04.003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022383339"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ana.24362", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023741401"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.85.5.1600", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023968918"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1034/j.1399-0004.2003.00147.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024348806"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1194/jlr.r009548", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024500138"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0034195", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024950591"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.33.5.371", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026247514"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1159/000023243", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026354173"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380050205", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027876203"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.1380050205", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027876203"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/atvbaha.107.146639", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027906924"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/atvbaha.107.146639", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027906924"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s11910-014-0486-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028138278", 
              "https://doi.org/10.1007/s11910-014-0486-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-16-0171", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028140731"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.r400040200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029354717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ana.101", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030087812"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-08-0550", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030104001"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<260::aid-ajmg17>3.0.co;2-r", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030807385"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpeds.2004.06.045", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031829017"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00442740", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032741756", 
              "https://doi.org/10.1007/bf00442740"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00442740", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032741756", 
              "https://doi.org/10.1007/bf00442740"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3988/jcn.2011.7.1.1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033035257"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1300057110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033653478"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.braindev.2013.12.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034699955"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00207379", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035023370", 
              "https://doi.org/10.1007/bf00207379"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00207379", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035023370", 
              "https://doi.org/10.1007/bf00207379"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.33092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036313598"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00444957", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037375577", 
              "https://doi.org/10.1007/bf00444957"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00444957", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037375577", 
              "https://doi.org/10.1007/bf00444957"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-014-0133-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037665701", 
              "https://doi.org/10.1186/s13023-014-0133-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-014-0133-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037665701", 
              "https://doi.org/10.1186/s13023-014-0133-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2016.05.001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037719433"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(13)61684-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038181570"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0889-8529(08)70017-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038365762"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/adc.2005.091637", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038454402"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-7-51", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039469342", 
              "https://doi.org/10.1186/1750-1172-7-51"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050280", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040160482", 
              "https://doi.org/10.1007/s004390050280"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050280", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040160482", 
              "https://doi.org/10.1007/s004390050280"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.1545", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040909914"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199612193352503", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041181643"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci115520", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041721728"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jsbmb.2016.03.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041928592"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1388-1981(00)00160-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042157853"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.revmed.2010.01.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042892336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.85.20.7486", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043801957"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jnnp.63.1.4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043882975"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejmra021561", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044675116"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2012.01.018", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046693954"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2005.07.019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048138254"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awt361", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048754150"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/maj.0b013e3181db6b7a", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049239727"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/maj.0b013e3181db6b7a", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049239727"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2015-2232", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049322862"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1515/jpem.1997.10.1.55", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050296527"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2006.12.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051668983"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/361726a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051671006", 
              "https://doi.org/10.1038/361726a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/301931", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058609526"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/340849", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058638786"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1089/dna.1991.10.1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059251052"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1089/gtmb.2010.0203", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059267743"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/er.2002-0050", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064285771"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2002-021681", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064286487"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2004-0016", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064287625"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2006-0858", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064289294"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2006-1565", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064289486"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2009-2631", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064291902"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2010-0319", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064292057"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.2012-3148", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064293872"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jc.82.10.3293", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064299288"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.78.5.8175971", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064318690"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.81.2.8636252", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064320006"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.83.8.5027", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064321997"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.84.5.5677-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064322634"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.85.3.6441", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064323380"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/jcem.86.8.7748", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064324658"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/mend-5-5-685", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064331107"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1210/mend.6.8.1406709", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064333098"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.101.4.583", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1067819446"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1542/peds.105.1.e10", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1067820372"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078524290", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078547892", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078739754", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078739754", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1079646202", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1083248477", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci89626", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083643928"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci90171", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083643930"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci90171", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083643930"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.23192", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083736380"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ecl.2017.01.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084070181"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-17-0128", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085078248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-17-0128", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085078248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1530/eje-17-0128", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085078248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.46", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085588334", 
              "https://doi.org/10.1038/gim.2017.46"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.46", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085588334", 
              "https://doi.org/10.1038/gim.2017.46"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.46", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085588334", 
              "https://doi.org/10.1038/gim.2017.46"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.46", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085588334", 
              "https://doi.org/10.1038/gim.2017.46"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2017.46", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085588334", 
              "https://doi.org/10.1038/gim.2017.46"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-018-0785-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103148548", 
              "https://doi.org/10.1186/s13023-018-0785-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-018-0785-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103148548", 
              "https://doi.org/10.1186/s13023-018-0785-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-018-0785-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103148548", 
              "https://doi.org/10.1186/s13023-018-0785-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-018-0785-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103148548", 
              "https://doi.org/10.1186/s13023-018-0785-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-018-0785-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1103148548", 
              "https://doi.org/10.1186/s13023-018-0785-7"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-03", 
        "datePublishedReg": "2018-03-01", 
        "description": "Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year. Several pitfalls in the genetic diagnosis of patients with PAI exist. In this review, we provide an in-depth discussion and overview on the inborn errors of metabolism manifesting with PAI, including genetic diagnosis, genotype-phenotype relationships and counseling of patients and their families with a focus on various enzymatic deficiencies of steroidogenesis.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s11154-018-9447-2", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1022713", 
            "issn": [
              "1389-9155", 
              "1573-2606"
            ], 
            "name": "Reviews in Endocrine and Metabolic Disorders", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "19"
          }
        ], 
        "name": "An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency", 
        "pagination": "53-67", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "8408a4e8d6f746b34c3fbfc3b3f85efec83ee1a5f5661d755a5e098e227b847e"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29956047"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100940588"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s11154-018-9447-2"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1105172463"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s11154-018-9447-2", 
          "https://app.dimensions.ai/details/publication/pub.1105172463"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T14:01", 
        "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/v90/0000000371_0000000371/records_130829_00000005.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1007%2Fs11154-018-9447-2"
      }
    ]
     

    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/s11154-018-9447-2'

    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/s11154-018-9447-2'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s11154-018-9447-2'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s11154-018-9447-2'


     

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

    431 TRIPLES      21 PREDICATES      142 URIs      24 LITERALS      12 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s11154-018-9447-2 schema:about N0c6b9ba847ef4555a147e6f10b6cb25c
    2 N8f80772715bc44b6af74acffcfb8255c
    3 Nfa89ec4fa86d4b6c8b6501fd51af23bf
    4 anzsrc-for:06
    5 anzsrc-for:0604
    6 schema:author Nd97096bb9a70455a84a3b9b9246ee0ff
    7 schema:citation sg:pub.10.1007/bf00207379
    8 sg:pub.10.1007/bf00442740
    9 sg:pub.10.1007/bf00444957
    10 sg:pub.10.1007/bf01835678
    11 sg:pub.10.1007/bf02013008
    12 sg:pub.10.1007/s004310050902
    13 sg:pub.10.1007/s004390050280
    14 sg:pub.10.1007/s004390050672
    15 sg:pub.10.1007/s11910-014-0486-0
    16 sg:pub.10.1038/361726a0
    17 sg:pub.10.1038/gim.2015.25
    18 sg:pub.10.1038/gim.2016.68
    19 sg:pub.10.1038/gim.2017.46
    20 sg:pub.10.1038/ng1300
    21 sg:pub.10.1186/1471-2350-10-72
    22 sg:pub.10.1186/1750-1172-7-51
    23 sg:pub.10.1186/s13023-014-0133-5
    24 sg:pub.10.1186/s13023-018-0785-7
    25 https://app.dimensions.ai/details/publication/pub.1078524290
    26 https://app.dimensions.ai/details/publication/pub.1078547892
    27 https://app.dimensions.ai/details/publication/pub.1078739754
    28 https://app.dimensions.ai/details/publication/pub.1079646202
    29 https://app.dimensions.ai/details/publication/pub.1083248477
    30 https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<260::aid-ajmg17>3.0.co;2-r
    31 https://doi.org/10.1002/ajmg.1545
    32 https://doi.org/10.1002/ajmg.a.33092
    33 https://doi.org/10.1002/ana.101
    34 https://doi.org/10.1002/ana.24362
    35 https://doi.org/10.1002/humu.1380050205
    36 https://doi.org/10.1002/humu.23192
    37 https://doi.org/10.1006/mgme.1999.2904
    38 https://doi.org/10.1016/0378-1135(83)90077-9
    39 https://doi.org/10.1016/j.ajhg.2008.09.009
    40 https://doi.org/10.1016/j.braindev.2013.12.009
    41 https://doi.org/10.1016/j.ecl.2017.01.008
    42 https://doi.org/10.1016/j.ejmg.2010.10.005
    43 https://doi.org/10.1016/j.ejmg.2015.04.003
    44 https://doi.org/10.1016/j.jaad.2011.09.003
    45 https://doi.org/10.1016/j.jpeds.2004.06.045
    46 https://doi.org/10.1016/j.jsbmb.2016.03.009
    47 https://doi.org/10.1016/j.prp.2003.11.001
    48 https://doi.org/10.1016/j.revmed.2010.01.009
    49 https://doi.org/10.1016/j.ymgme.2005.07.019
    50 https://doi.org/10.1016/j.ymgme.2006.12.005
    51 https://doi.org/10.1016/j.ymgme.2012.01.018
    52 https://doi.org/10.1016/j.ymgme.2016.03.009
    53 https://doi.org/10.1016/j.ymgme.2016.05.001
    54 https://doi.org/10.1016/s0022-3476(95)70250-4
    55 https://doi.org/10.1016/s0140-6736(13)61684-0
    56 https://doi.org/10.1016/s0889-8529(08)70017-3
    57 https://doi.org/10.1016/s1388-1981(00)00160-8
    58 https://doi.org/10.1034/j.1399-0004.2003.00147.x
    59 https://doi.org/10.1056/nejm199612193352503
    60 https://doi.org/10.1056/nejmra021561
    61 https://doi.org/10.1073/pnas.1300057110
    62 https://doi.org/10.1073/pnas.83.9.2841
    63 https://doi.org/10.1073/pnas.85.20.7486
    64 https://doi.org/10.1073/pnas.85.5.1600
    65 https://doi.org/10.1073/pnas.92.23.10796
    66 https://doi.org/10.1074/jbc.r400040200
    67 https://doi.org/10.1086/301931
    68 https://doi.org/10.1086/340849
    69 https://doi.org/10.1089/dna.1991.10.1
    70 https://doi.org/10.1089/gtmb.2010.0203
    71 https://doi.org/10.1093/brain/awt361
    72 https://doi.org/10.1097/maj.0b013e3181db6b7a
    73 https://doi.org/10.1111/j.1742-1241.2005.00620.x
    74 https://doi.org/10.1111/j.1750-3639.2006.tb00561.x
    75 https://doi.org/10.1136/adc.2005.091637
    76 https://doi.org/10.1136/jmg.33.5.371
    77 https://doi.org/10.1136/jnnp.63.1.4
    78 https://doi.org/10.1159/000023243
    79 https://doi.org/10.1161/atvbaha.107.146639
    80 https://doi.org/10.1172/jci115520
    81 https://doi.org/10.1172/jci115897
    82 https://doi.org/10.1172/jci89626
    83 https://doi.org/10.1172/jci90171
    84 https://doi.org/10.1194/jlr.r009548
    85 https://doi.org/10.1210/er.2002-0050
    86 https://doi.org/10.1210/jc.2002-021681
    87 https://doi.org/10.1210/jc.2004-0016
    88 https://doi.org/10.1210/jc.2006-0858
    89 https://doi.org/10.1210/jc.2006-1565
    90 https://doi.org/10.1210/jc.2009-2631
    91 https://doi.org/10.1210/jc.2010-0319
    92 https://doi.org/10.1210/jc.2011-0640
    93 https://doi.org/10.1210/jc.2012-3148
    94 https://doi.org/10.1210/jc.2015-1710
    95 https://doi.org/10.1210/jc.2015-2232
    96 https://doi.org/10.1210/jc.2015-3250
    97 https://doi.org/10.1210/jc.82.10.3293
    98 https://doi.org/10.1210/jcem.78.5.8175971
    99 https://doi.org/10.1210/jcem.81.2.8636252
    100 https://doi.org/10.1210/jcem.83.8.5027
    101 https://doi.org/10.1210/jcem.84.5.5677-7
    102 https://doi.org/10.1210/jcem.85.3.6441
    103 https://doi.org/10.1210/jcem.86.8.7748
    104 https://doi.org/10.1210/mend-5-5-685
    105 https://doi.org/10.1210/mend.6.8.1406709
    106 https://doi.org/10.1371/journal.pgen.1005679
    107 https://doi.org/10.1371/journal.pone.0034195
    108 https://doi.org/10.1515/jpem.1997.10.1.55
    109 https://doi.org/10.1530/eje-08-0550
    110 https://doi.org/10.1530/eje-11-0019
    111 https://doi.org/10.1530/eje-16-0171
    112 https://doi.org/10.1530/eje-17-0128
    113 https://doi.org/10.1542/peds.101.4.583
    114 https://doi.org/10.1542/peds.105.1.e10
    115 https://doi.org/10.3988/jcn.2011.7.1.1
    116 https://doi.org/10.4158/ep10095.ra
    117 schema:datePublished 2018-03
    118 schema:datePublishedReg 2018-03-01
    119 schema:description Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year. Several pitfalls in the genetic diagnosis of patients with PAI exist. In this review, we provide an in-depth discussion and overview on the inborn errors of metabolism manifesting with PAI, including genetic diagnosis, genotype-phenotype relationships and counseling of patients and their families with a focus on various enzymatic deficiencies of steroidogenesis.
    120 schema:genre research_article
    121 schema:inLanguage en
    122 schema:isAccessibleForFree false
    123 schema:isPartOf N6a23fee8fcdb49b2aaf3a56572393228
    124 Ncce0cb560bd04acd939d387f025bfb46
    125 sg:journal.1022713
    126 schema:name An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency
    127 schema:pagination 53-67
    128 schema:productId N2e0d1baead574f44a0b64c756c92fd36
    129 N535a4be7935f47f79067bceae6ddc83c
    130 N64cfdec1803f4835952e49e1de1e195d
    131 Na01ee03926d54df08539e9c77e71761f
    132 Nc9bc97a1294a4452bda59c6e6b0928ec
    133 schema:sameAs https://app.dimensions.ai/details/publication/pub.1105172463
    134 https://doi.org/10.1007/s11154-018-9447-2
    135 schema:sdDatePublished 2019-04-11T14:01
    136 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    137 schema:sdPublisher Nbfa25dd7290f409e9a5f10ddb8d45c36
    138 schema:url https://link.springer.com/10.1007%2Fs11154-018-9447-2
    139 sgo:license sg:explorer/license/
    140 sgo:sdDataset articles
    141 rdf:type schema:ScholarlyArticle
    142 N0c6b9ba847ef4555a147e6f10b6cb25c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    143 schema:name Humans
    144 rdf:type schema:DefinedTerm
    145 N2e0d1baead574f44a0b64c756c92fd36 schema:name dimensions_id
    146 schema:value pub.1105172463
    147 rdf:type schema:PropertyValue
    148 N42ad0be04e8641f2bc6788e81c8673ae rdf:first sg:person.011151216517.08
    149 rdf:rest rdf:nil
    150 N535a4be7935f47f79067bceae6ddc83c schema:name doi
    151 schema:value 10.1007/s11154-018-9447-2
    152 rdf:type schema:PropertyValue
    153 N64cfdec1803f4835952e49e1de1e195d schema:name pubmed_id
    154 schema:value 29956047
    155 rdf:type schema:PropertyValue
    156 N6a23fee8fcdb49b2aaf3a56572393228 schema:issueNumber 1
    157 rdf:type schema:PublicationIssue
    158 N8f80772715bc44b6af74acffcfb8255c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    159 schema:name Adrenal Insufficiency
    160 rdf:type schema:DefinedTerm
    161 Na01ee03926d54df08539e9c77e71761f schema:name readcube_id
    162 schema:value 8408a4e8d6f746b34c3fbfc3b3f85efec83ee1a5f5661d755a5e098e227b847e
    163 rdf:type schema:PropertyValue
    164 Nbfa25dd7290f409e9a5f10ddb8d45c36 schema:name Springer Nature - SN SciGraph project
    165 rdf:type schema:Organization
    166 Nc9bc97a1294a4452bda59c6e6b0928ec schema:name nlm_unique_id
    167 schema:value 100940588
    168 rdf:type schema:PropertyValue
    169 Ncce0cb560bd04acd939d387f025bfb46 schema:volumeNumber 19
    170 rdf:type schema:PublicationVolume
    171 Nd97096bb9a70455a84a3b9b9246ee0ff rdf:first sg:person.01315132137.22
    172 rdf:rest N42ad0be04e8641f2bc6788e81c8673ae
    173 Nfa89ec4fa86d4b6c8b6501fd51af23bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Metabolism, Inborn Errors
    175 rdf:type schema:DefinedTerm
    176 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    177 schema:name Biological Sciences
    178 rdf:type schema:DefinedTerm
    179 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    180 schema:name Genetics
    181 rdf:type schema:DefinedTerm
    182 sg:journal.1022713 schema:issn 1389-9155
    183 1573-2606
    184 schema:name Reviews in Endocrine and Metabolic Disorders
    185 rdf:type schema:Periodical
    186 sg:person.011151216517.08 schema:affiliation https://www.grid.ac/institutes/grid.420089.7
    187 schema:familyName Stratakis
    188 schema:givenName Constantine A.
    189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011151216517.08
    190 rdf:type schema:Person
    191 sg:person.01315132137.22 schema:affiliation https://www.grid.ac/institutes/grid.420089.7
    192 schema:familyName Hannah-Shmouni
    193 schema:givenName Fady
    194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315132137.22
    195 rdf:type schema:Person
    196 sg:pub.10.1007/bf00207379 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035023370
    197 https://doi.org/10.1007/bf00207379
    198 rdf:type schema:CreativeWork
    199 sg:pub.10.1007/bf00442740 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032741756
    200 https://doi.org/10.1007/bf00442740
    201 rdf:type schema:CreativeWork
    202 sg:pub.10.1007/bf00444957 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037375577
    203 https://doi.org/10.1007/bf00444957
    204 rdf:type schema:CreativeWork
    205 sg:pub.10.1007/bf01835678 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012895332
    206 https://doi.org/10.1007/bf01835678
    207 rdf:type schema:CreativeWork
    208 sg:pub.10.1007/bf02013008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017302813
    209 https://doi.org/10.1007/bf02013008
    210 rdf:type schema:CreativeWork
    211 sg:pub.10.1007/s004310050902 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007909588
    212 https://doi.org/10.1007/s004310050902
    213 rdf:type schema:CreativeWork
    214 sg:pub.10.1007/s004390050280 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040160482
    215 https://doi.org/10.1007/s004390050280
    216 rdf:type schema:CreativeWork
    217 sg:pub.10.1007/s004390050672 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022365604
    218 https://doi.org/10.1007/s004390050672
    219 rdf:type schema:CreativeWork
    220 sg:pub.10.1007/s11910-014-0486-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028138278
    221 https://doi.org/10.1007/s11910-014-0486-0
    222 rdf:type schema:CreativeWork
    223 sg:pub.10.1038/361726a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051671006
    224 https://doi.org/10.1038/361726a0
    225 rdf:type schema:CreativeWork
    226 sg:pub.10.1038/gim.2015.25 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009690156
    227 https://doi.org/10.1038/gim.2015.25
    228 rdf:type schema:CreativeWork
    229 sg:pub.10.1038/gim.2016.68 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015782267
    230 https://doi.org/10.1038/gim.2016.68
    231 rdf:type schema:CreativeWork
    232 sg:pub.10.1038/gim.2017.46 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085588334
    233 https://doi.org/10.1038/gim.2017.46
    234 rdf:type schema:CreativeWork
    235 sg:pub.10.1038/ng1300 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008239703
    236 https://doi.org/10.1038/ng1300
    237 rdf:type schema:CreativeWork
    238 sg:pub.10.1186/1471-2350-10-72 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017074380
    239 https://doi.org/10.1186/1471-2350-10-72
    240 rdf:type schema:CreativeWork
    241 sg:pub.10.1186/1750-1172-7-51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039469342
    242 https://doi.org/10.1186/1750-1172-7-51
    243 rdf:type schema:CreativeWork
    244 sg:pub.10.1186/s13023-014-0133-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037665701
    245 https://doi.org/10.1186/s13023-014-0133-5
    246 rdf:type schema:CreativeWork
    247 sg:pub.10.1186/s13023-018-0785-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103148548
    248 https://doi.org/10.1186/s13023-018-0785-7
    249 rdf:type schema:CreativeWork
    250 https://app.dimensions.ai/details/publication/pub.1078524290 schema:CreativeWork
    251 https://app.dimensions.ai/details/publication/pub.1078547892 schema:CreativeWork
    252 https://app.dimensions.ai/details/publication/pub.1078739754 schema:CreativeWork
    253 https://app.dimensions.ai/details/publication/pub.1079646202 schema:CreativeWork
    254 https://app.dimensions.ai/details/publication/pub.1083248477 schema:CreativeWork
    255 https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<260::aid-ajmg17>3.0.co;2-r schema:sameAs https://app.dimensions.ai/details/publication/pub.1030807385
    256 rdf:type schema:CreativeWork
    257 https://doi.org/10.1002/ajmg.1545 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040909914
    258 rdf:type schema:CreativeWork
    259 https://doi.org/10.1002/ajmg.a.33092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036313598
    260 rdf:type schema:CreativeWork
    261 https://doi.org/10.1002/ana.101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030087812
    262 rdf:type schema:CreativeWork
    263 https://doi.org/10.1002/ana.24362 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023741401
    264 rdf:type schema:CreativeWork
    265 https://doi.org/10.1002/humu.1380050205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027876203
    266 rdf:type schema:CreativeWork
    267 https://doi.org/10.1002/humu.23192 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083736380
    268 rdf:type schema:CreativeWork
    269 https://doi.org/10.1006/mgme.1999.2904 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000807297
    270 rdf:type schema:CreativeWork
    271 https://doi.org/10.1016/0378-1135(83)90077-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018169004
    272 rdf:type schema:CreativeWork
    273 https://doi.org/10.1016/j.ajhg.2008.09.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015477018
    274 rdf:type schema:CreativeWork
    275 https://doi.org/10.1016/j.braindev.2013.12.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034699955
    276 rdf:type schema:CreativeWork
    277 https://doi.org/10.1016/j.ecl.2017.01.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084070181
    278 rdf:type schema:CreativeWork
    279 https://doi.org/10.1016/j.ejmg.2010.10.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018408612
    280 rdf:type schema:CreativeWork
    281 https://doi.org/10.1016/j.ejmg.2015.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022383339
    282 rdf:type schema:CreativeWork
    283 https://doi.org/10.1016/j.jaad.2011.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013892982
    284 rdf:type schema:CreativeWork
    285 https://doi.org/10.1016/j.jpeds.2004.06.045 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031829017
    286 rdf:type schema:CreativeWork
    287 https://doi.org/10.1016/j.jsbmb.2016.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041928592
    288 rdf:type schema:CreativeWork
    289 https://doi.org/10.1016/j.prp.2003.11.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017093668
    290 rdf:type schema:CreativeWork
    291 https://doi.org/10.1016/j.revmed.2010.01.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042892336
    292 rdf:type schema:CreativeWork
    293 https://doi.org/10.1016/j.ymgme.2005.07.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048138254
    294 rdf:type schema:CreativeWork
    295 https://doi.org/10.1016/j.ymgme.2006.12.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051668983
    296 rdf:type schema:CreativeWork
    297 https://doi.org/10.1016/j.ymgme.2012.01.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046693954
    298 rdf:type schema:CreativeWork
    299 https://doi.org/10.1016/j.ymgme.2016.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010331875
    300 rdf:type schema:CreativeWork
    301 https://doi.org/10.1016/j.ymgme.2016.05.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037719433
    302 rdf:type schema:CreativeWork
    303 https://doi.org/10.1016/s0022-3476(95)70250-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010084535
    304 rdf:type schema:CreativeWork
    305 https://doi.org/10.1016/s0140-6736(13)61684-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038181570
    306 rdf:type schema:CreativeWork
    307 https://doi.org/10.1016/s0889-8529(08)70017-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038365762
    308 rdf:type schema:CreativeWork
    309 https://doi.org/10.1016/s1388-1981(00)00160-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042157853
    310 rdf:type schema:CreativeWork
    311 https://doi.org/10.1034/j.1399-0004.2003.00147.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1024348806
    312 rdf:type schema:CreativeWork
    313 https://doi.org/10.1056/nejm199612193352503 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041181643
    314 rdf:type schema:CreativeWork
    315 https://doi.org/10.1056/nejmra021561 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044675116
    316 rdf:type schema:CreativeWork
    317 https://doi.org/10.1073/pnas.1300057110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033653478
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1073/pnas.83.9.2841 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008550574
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1073/pnas.85.20.7486 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043801957
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1073/pnas.85.5.1600 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023968918
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1073/pnas.92.23.10796 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014283236
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1074/jbc.r400040200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029354717
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1086/301931 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609526
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1086/340849 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058638786
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1089/dna.1991.10.1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059251052
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1089/gtmb.2010.0203 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059267743
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1093/brain/awt361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048754150
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1097/maj.0b013e3181db6b7a schema:sameAs https://app.dimensions.ai/details/publication/pub.1049239727
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1111/j.1742-1241.2005.00620.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1014316277
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1111/j.1750-3639.2006.tb00561.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1000796273
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1136/adc.2005.091637 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038454402
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1136/jmg.33.5.371 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026247514
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1136/jnnp.63.1.4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043882975
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1159/000023243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026354173
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1161/atvbaha.107.146639 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027906924
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1172/jci115520 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041721728
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1172/jci115897 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021097824
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1172/jci89626 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083643928
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1172/jci90171 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083643930
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1194/jlr.r009548 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024500138
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1210/er.2002-0050 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064285771
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1210/jc.2002-021681 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064286487
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1210/jc.2004-0016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064287625
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1210/jc.2006-0858 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064289294
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1210/jc.2006-1565 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064289486
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1210/jc.2009-2631 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064291902
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1210/jc.2010-0319 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064292057
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1210/jc.2011-0640 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014832680
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1210/jc.2012-3148 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064293872
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1210/jc.2015-1710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011995472
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1210/jc.2015-2232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049322862
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1210/jc.2015-3250 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014272995
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1210/jc.82.10.3293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064299288
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1210/jcem.78.5.8175971 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064318690
    392 rdf:type schema:CreativeWork
    393 https://doi.org/10.1210/jcem.81.2.8636252 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064320006
    394 rdf:type schema:CreativeWork
    395 https://doi.org/10.1210/jcem.83.8.5027 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064321997
    396 rdf:type schema:CreativeWork
    397 https://doi.org/10.1210/jcem.84.5.5677-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064322634
    398 rdf:type schema:CreativeWork
    399 https://doi.org/10.1210/jcem.85.3.6441 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064323380
    400 rdf:type schema:CreativeWork
    401 https://doi.org/10.1210/jcem.86.8.7748 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064324658
    402 rdf:type schema:CreativeWork
    403 https://doi.org/10.1210/mend-5-5-685 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064331107
    404 rdf:type schema:CreativeWork
    405 https://doi.org/10.1210/mend.6.8.1406709 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064333098
    406 rdf:type schema:CreativeWork
    407 https://doi.org/10.1371/journal.pgen.1005679 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021802962
    408 rdf:type schema:CreativeWork
    409 https://doi.org/10.1371/journal.pone.0034195 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024950591
    410 rdf:type schema:CreativeWork
    411 https://doi.org/10.1515/jpem.1997.10.1.55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050296527
    412 rdf:type schema:CreativeWork
    413 https://doi.org/10.1530/eje-08-0550 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030104001
    414 rdf:type schema:CreativeWork
    415 https://doi.org/10.1530/eje-11-0019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011229717
    416 rdf:type schema:CreativeWork
    417 https://doi.org/10.1530/eje-16-0171 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028140731
    418 rdf:type schema:CreativeWork
    419 https://doi.org/10.1530/eje-17-0128 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085078248
    420 rdf:type schema:CreativeWork
    421 https://doi.org/10.1542/peds.101.4.583 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067819446
    422 rdf:type schema:CreativeWork
    423 https://doi.org/10.1542/peds.105.1.e10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067820372
    424 rdf:type schema:CreativeWork
    425 https://doi.org/10.3988/jcn.2011.7.1.1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033035257
    426 rdf:type schema:CreativeWork
    427 https://doi.org/10.4158/ep10095.ra schema:sameAs https://app.dimensions.ai/details/publication/pub.1006530417
    428 rdf:type schema:CreativeWork
    429 https://www.grid.ac/institutes/grid.420089.7 schema:alternateName National Institute of Child Health and Human Development
    430 schema:name Section on Endocrinology & Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Dr., MSC1103, 20892, Bethesda, MD, USA
    431 rdf:type schema:Organization
     




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


    ...