Infantile Refsum disease: an inherited peroxisomal disorder View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1987-09

AUTHORS

B. T. Poll-The, J. M. Saudubray, H. A. M. Ogier, M. Odièvre, J. M. Scotto, L. Monnens, L. C. P. Govaerts, F. Roels, A. Cornelis, R. B. H. Schutgens, R. J. A. Wanders, A. W. Schram, J. M. Tager

ABSTRACT

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome. More... »

PAGES

477-483

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00441598

DOI

http://dx.doi.org/10.1007/bf00441598

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025539519

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2445576


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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "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": "Adrenoleukodystrophy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biopsy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diagnosis, Differential", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diffuse Cerebral Sclerosis of Schilder", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Electroencephalography", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Enzymes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hepatorenal Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kidney Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Liver", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microbodies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microscopy, Electron", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Refsum Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Tomography, X-Ray Computed", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Bic\u00eatre Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413784.d", 
          "name": [
            "Clinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants Malades, Paris, France", 
            "H\u00f4pital Antoine B\u00e9cl\u00e8re, Paris, France", 
            "H\u00f4pital de Bic\u00eatre INSERM U. 56, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Poll-The", 
        "givenName": "B. T.", 
        "id": "sg:person.016377007734.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016377007734.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bic\u00eatre Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413784.d", 
          "name": [
            "Clinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants Malades, Paris, France", 
            "H\u00f4pital Antoine B\u00e9cl\u00e8re, Paris, France", 
            "H\u00f4pital de Bic\u00eatre INSERM U. 56, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saudubray", 
        "givenName": "J. M.", 
        "id": "sg:person.013377372542.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013377372542.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bic\u00eatre Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413784.d", 
          "name": [
            "Clinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants Malades, Paris, France", 
            "H\u00f4pital Antoine B\u00e9cl\u00e8re, Paris, France", 
            "H\u00f4pital de Bic\u00eatre INSERM U. 56, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogier", 
        "givenName": "H. A. M.", 
        "id": "sg:person.013445265144.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013445265144.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bic\u00eatre Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413784.d", 
          "name": [
            "Clinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants Malades, Paris, France", 
            "H\u00f4pital Antoine B\u00e9cl\u00e8re, Paris, France", 
            "H\u00f4pital de Bic\u00eatre INSERM U. 56, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Odi\u00e8vre", 
        "givenName": "M.", 
        "id": "sg:person.0100737426.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100737426.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bic\u00eatre Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413784.d", 
          "name": [
            "Clinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants Malades, Paris, France", 
            "H\u00f4pital Antoine B\u00e9cl\u00e8re, Paris, France", 
            "H\u00f4pital de Bic\u00eatre INSERM U. 56, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scotto", 
        "givenName": "J. M.", 
        "id": "sg:person.070056160.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.070056160.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Pediatrics, University Hospital, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Monnens", 
        "givenName": "L.", 
        "id": "sg:person.01040013733.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040013733.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Groningen", 
          "id": "https://www.grid.ac/institutes/grid.4830.f", 
          "name": [
            "Department for Anthropogenetics, State University of Groningen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Govaerts", 
        "givenName": "L. C. P.", 
        "id": "sg:person.016570754727.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016570754727.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vrije Universiteit Brussel", 
          "id": "https://www.grid.ac/institutes/grid.8767.e", 
          "name": [
            "Laboratorium voor Menselijke Anatomie, Fakulteit Geneeskunde en Farmacie, Vrije Universiteit, Brussels, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roels", 
        "givenName": "F.", 
        "id": "sg:person.01250000003.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250000003.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vrije Universiteit Brussel", 
          "id": "https://www.grid.ac/institutes/grid.8767.e", 
          "name": [
            "Laboratorium voor Menselijke Anatomie, Fakulteit Geneeskunde en Farmacie, Vrije Universiteit, Brussels, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cornelis", 
        "givenName": "A.", 
        "id": "sg:person.01313662471.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313662471.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Pediatrics, University Hospital of Amsterdam, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schutgens", 
        "givenName": "R. B. H.", 
        "id": "sg:person.015061171357.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015061171357.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Pediatrics, University Hospital of Amsterdam, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wanders", 
        "givenName": "R. J. A.", 
        "id": "sg:person.012310667352.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012310667352.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Amsterdam", 
          "id": "https://www.grid.ac/institutes/grid.7177.6", 
          "name": [
            "Laboratory of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schram", 
        "givenName": "A. W.", 
        "id": "sg:person.012436416414.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012436416414.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Amsterdam", 
          "id": "https://www.grid.ac/institutes/grid.7177.6", 
          "name": [
            "Laboratory of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tager", 
        "givenName": "J. M.", 
        "id": "sg:person.0627746335.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627746335.85"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf01799998", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001860761", 
          "https://doi.org/10.1007/bf01799998"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01799998", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001860761"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198502143120717", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002298155"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/00365518409083839", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003964570"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(86)80765-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005500812"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01811412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005534702", 
          "https://doi.org/10.1007/bf01811412"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01811412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005534702"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410120507", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006597245"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441753", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007887012", 
          "https://doi.org/10.1007/bf00441753"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441753", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007887012", 
          "https://doi.org/10.1007/bf00441753"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0006-291x(84)80240-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010451068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pd.1970050506", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011647064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(85)90003-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014391004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(85)90003-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014391004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/00365518509155292", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015522285"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198405033101802", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019200844"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320250210", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022408936"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320250210", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022408936"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1985.tb00246.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023067115"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(80)90169-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023568219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(80)90169-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023568219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01805476", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027309225", 
          "https://doi.org/10.1007/bf01805476"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0968-0004(83)90077-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029262351"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00685001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029661868", 
          "https://doi.org/10.1007/bf00685001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00685001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029661868", 
          "https://doi.org/10.1007/bf00685001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320160409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031121467"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320160409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031121467"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01468803", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031943701", 
          "https://doi.org/10.1007/bf01468803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01468803", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031943701", 
          "https://doi.org/10.1007/bf01468803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198507183130322", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032201658"
        ], 
        "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": "sg:pub.10.1007/bf00441734", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033665400", 
          "https://doi.org/10.1007/bf00441734"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441734", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033665400", 
          "https://doi.org/10.1007/bf00441734"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00446057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035379757", 
          "https://doi.org/10.1007/bf00446057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00446057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035379757", 
          "https://doi.org/10.1007/bf00446057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198603203141216", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036277671"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441876", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036414422", 
          "https://doi.org/10.1007/bf00441876"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441876", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036414422", 
          "https://doi.org/10.1007/bf00441876"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/27.11.92501", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039475029"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/27.11.92501", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039475029"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320190420", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045235753"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320190420", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045235753"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01799455", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045516579", 
          "https://doi.org/10.1007/bf01799455"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01799455", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045516579"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/00006450-198203000-00002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046059177", 
          "https://doi.org/10.1203/00006450-198203000-00002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/306069a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048522533", 
          "https://doi.org/10.1038/306069a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441495", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048767423", 
          "https://doi.org/10.1007/bf00441495"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441495", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048767423", 
          "https://doi.org/10.1007/bf00441495"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0006-291x(85)90322-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049026138"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01799073", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050778785", 
          "https://doi.org/10.1007/bf01799073"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01799073", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050778785"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(86)80764-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051027221"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(81)80393-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051388756"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1984.tb01107.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052158701"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.182.4107.62", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062508279"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.3964959", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062622672"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.424737", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062624796"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.34.12.1606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064365199"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076311140", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082145677", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082196517", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1987-09", 
    "datePublishedReg": "1987-09-01", 
    "description": "Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/bf00441598", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1017354", 
        "issn": [
          "0340-6199", 
          "1432-1076"
        ], 
        "name": "European Journal of Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "146"
      }
    ], 
    "name": "Infantile Refsum disease: an inherited peroxisomal disorder", 
    "pagination": "477-483", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "79abff79602eede6e69d9620d5ca56a4caff36fa31b56ba42e335e0d21611bbc"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "2445576"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7603873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/bf00441598"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1025539519"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/bf00441598", 
      "https://app.dimensions.ai/details/publication/pub.1025539519"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:57", 
    "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_130820_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/BF00441598"
  }
]
 

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/bf00441598'

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/bf00441598'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00441598'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00441598'


 

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

390 TRIPLES      21 PREDICATES      93 URIs      37 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/bf00441598 schema:about N12a3ee870173444a9b90bf77e52c8232
2 N2caebb38b90343a0999a2b796e0d6900
3 N3cea0d49eb66432080891ac9f60c5945
4 N42cd9daeb19a40f99c105aa696ee320a
5 N5cb900d91b0f427d990f123ffc6d79dd
6 N77b1e947774f433ab3dd8db2b48367a9
7 N7cb05f053a0e4ec1bbf675ebe0e1a529
8 N881008d8383545678099b5ca690355a2
9 N89a848e638bf4c29bf7333690bb19cd4
10 N900d665bc59f4534975c980506874566
11 N9274530d428641ecb845a9370e2675ef
12 N930f9aa0b64f4608b695e37149f26b09
13 N9c100f204f6342bfa76583c0880ab679
14 Nc0245a0a8116494b8a9d6bd12261e8d1
15 Ndacaf3e7f76c43ae81c23c043ec2c59a
16 Nf3d6548192684311b4896a07445f9bc2
17 anzsrc-for:11
18 anzsrc-for:1109
19 schema:author Nced70f98d36a4d62a0623d6efb3026ee
20 schema:citation sg:pub.10.1007/bf00441495
21 sg:pub.10.1007/bf00441734
22 sg:pub.10.1007/bf00441753
23 sg:pub.10.1007/bf00441876
24 sg:pub.10.1007/bf00442740
25 sg:pub.10.1007/bf00446057
26 sg:pub.10.1007/bf00685001
27 sg:pub.10.1007/bf01468803
28 sg:pub.10.1007/bf01799073
29 sg:pub.10.1007/bf01799455
30 sg:pub.10.1007/bf01799998
31 sg:pub.10.1007/bf01805476
32 sg:pub.10.1007/bf01811412
33 sg:pub.10.1038/306069a0
34 sg:pub.10.1203/00006450-198203000-00002
35 https://app.dimensions.ai/details/publication/pub.1076311140
36 https://app.dimensions.ai/details/publication/pub.1082145677
37 https://app.dimensions.ai/details/publication/pub.1082196517
38 https://doi.org/10.1002/ajmg.1320160409
39 https://doi.org/10.1002/ajmg.1320190420
40 https://doi.org/10.1002/ajmg.1320250210
41 https://doi.org/10.1002/ana.410120507
42 https://doi.org/10.1002/pd.1970050506
43 https://doi.org/10.1007/bf01799073
44 https://doi.org/10.1007/bf01799455
45 https://doi.org/10.1007/bf01799998
46 https://doi.org/10.1007/bf01811412
47 https://doi.org/10.1016/0006-291x(85)90322-5
48 https://doi.org/10.1016/0022-510x(80)90169-0
49 https://doi.org/10.1016/0022-510x(85)90003-6
50 https://doi.org/10.1016/0968-0004(83)90077-4
51 https://doi.org/10.1016/s0006-291x(84)80240-5
52 https://doi.org/10.1016/s0022-3476(81)80393-9
53 https://doi.org/10.1016/s0022-3476(86)80764-8
54 https://doi.org/10.1016/s0022-3476(86)80765-x
55 https://doi.org/10.1056/nejm198405033101802
56 https://doi.org/10.1056/nejm198502143120717
57 https://doi.org/10.1056/nejm198507183130322
58 https://doi.org/10.1056/nejm198603203141216
59 https://doi.org/10.1111/j.1399-0004.1984.tb01107.x
60 https://doi.org/10.1111/j.1399-0004.1985.tb00246.x
61 https://doi.org/10.1126/science.182.4107.62
62 https://doi.org/10.1126/science.3964959
63 https://doi.org/10.1126/science.424737
64 https://doi.org/10.1177/27.11.92501
65 https://doi.org/10.1212/wnl.34.12.1606
66 https://doi.org/10.3109/00365518409083839
67 https://doi.org/10.3109/00365518509155292
68 schema:datePublished 1987-09
69 schema:datePublishedReg 1987-09-01
70 schema:description Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.
71 schema:genre research_article
72 schema:inLanguage en
73 schema:isAccessibleForFree false
74 schema:isPartOf Nb5da9c8f0b4d49bba4ac22575c5551b2
75 Nfea04b758abe4ca9b21c52fa34b00f18
76 sg:journal.1017354
77 schema:name Infantile Refsum disease: an inherited peroxisomal disorder
78 schema:pagination 477-483
79 schema:productId N042c5ef846ae4e4ea0488db28af7fb4e
80 N0fd0bbd5069c4652b92ec769910d89eb
81 N763690aafadf42ef906f14549cc4ac5b
82 Na274445a31dd41979a247c0dae777f24
83 Nc6cc38c4fc5f446c91944a1e7fa8d23a
84 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025539519
85 https://doi.org/10.1007/bf00441598
86 schema:sdDatePublished 2019-04-11T13:57
87 schema:sdLicense https://scigraph.springernature.com/explorer/license/
88 schema:sdPublisher N136436bd5de547cea460f80de3830e21
89 schema:url http://link.springer.com/10.1007/BF00441598
90 sgo:license sg:explorer/license/
91 sgo:sdDataset articles
92 rdf:type schema:ScholarlyArticle
93 N042c5ef846ae4e4ea0488db28af7fb4e schema:name doi
94 schema:value 10.1007/bf00441598
95 rdf:type schema:PropertyValue
96 N0fd0bbd5069c4652b92ec769910d89eb schema:name nlm_unique_id
97 schema:value 7603873
98 rdf:type schema:PropertyValue
99 N12a3ee870173444a9b90bf77e52c8232 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Biopsy
101 rdf:type schema:DefinedTerm
102 N136436bd5de547cea460f80de3830e21 schema:name Springer Nature - SN SciGraph project
103 rdf:type schema:Organization
104 N1883c449bb2f445d8c297ee697854d4b rdf:first sg:person.01040013733.53
105 rdf:rest N7d19c38b89004660a3338f66eb1503a7
106 N2caebb38b90343a0999a2b796e0d6900 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Electroencephalography
108 rdf:type schema:DefinedTerm
109 N3cea0d49eb66432080891ac9f60c5945 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Hepatorenal Syndrome
111 rdf:type schema:DefinedTerm
112 N3f9f94193ba344c7b1b2b57e9799bbc6 rdf:first sg:person.070056160.72
113 rdf:rest N1883c449bb2f445d8c297ee697854d4b
114 N42cd9daeb19a40f99c105aa696ee320a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Kidney Diseases
116 rdf:type schema:DefinedTerm
117 N4cb6e2b37c5d4464b882419e1424d68f rdf:first sg:person.013377372542.45
118 rdf:rest N6df4635647f44196984d98fdf418b563
119 N5bd7b04eaaa44806a0945de51addd5fd rdf:first sg:person.0627746335.85
120 rdf:rest rdf:nil
121 N5cb900d91b0f427d990f123ffc6d79dd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Adrenoleukodystrophy
123 rdf:type schema:DefinedTerm
124 N66604c5260294d4098060b13a38d381d rdf:first sg:person.0100737426.09
125 rdf:rest N3f9f94193ba344c7b1b2b57e9799bbc6
126 N6df4635647f44196984d98fdf418b563 rdf:first sg:person.013445265144.36
127 rdf:rest N66604c5260294d4098060b13a38d381d
128 N763690aafadf42ef906f14549cc4ac5b schema:name dimensions_id
129 schema:value pub.1025539519
130 rdf:type schema:PropertyValue
131 N77b1e947774f433ab3dd8db2b48367a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Tomography, X-Ray Computed
133 rdf:type schema:DefinedTerm
134 N7cb05f053a0e4ec1bbf675ebe0e1a529 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Diagnosis, Differential
136 rdf:type schema:DefinedTerm
137 N7d19c38b89004660a3338f66eb1503a7 rdf:first sg:person.016570754727.14
138 rdf:rest Nb31a2b788c69430e91e9619737c4a4e0
139 N881008d8383545678099b5ca690355a2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Child
141 rdf:type schema:DefinedTerm
142 N89a848e638bf4c29bf7333690bb19cd4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Microbodies
144 rdf:type schema:DefinedTerm
145 N900d665bc59f4534975c980506874566 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Liver
147 rdf:type schema:DefinedTerm
148 N9274530d428641ecb845a9370e2675ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Microscopy, Electron
150 rdf:type schema:DefinedTerm
151 N930f9aa0b64f4608b695e37149f26b09 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Humans
153 rdf:type schema:DefinedTerm
154 N9c100f204f6342bfa76583c0880ab679 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Diffuse Cerebral Sclerosis of Schilder
156 rdf:type schema:DefinedTerm
157 Na274445a31dd41979a247c0dae777f24 schema:name readcube_id
158 schema:value 79abff79602eede6e69d9620d5ca56a4caff36fa31b56ba42e335e0d21611bbc
159 rdf:type schema:PropertyValue
160 Na9ef485fbf794694a9aab9e2ea93fe9b rdf:first sg:person.012436416414.28
161 rdf:rest N5bd7b04eaaa44806a0945de51addd5fd
162 Nb31a2b788c69430e91e9619737c4a4e0 rdf:first sg:person.01250000003.90
163 rdf:rest Ne715a24718d64ab4b6bb2c0c85821ec9
164 Nb41d310dcb4d445eb054112ebaf8139e rdf:first sg:person.015061171357.54
165 rdf:rest Nbac1d39cd61a4ebf990b7bdb189a4884
166 Nb5da9c8f0b4d49bba4ac22575c5551b2 schema:issueNumber 5
167 rdf:type schema:PublicationIssue
168 Nbac1d39cd61a4ebf990b7bdb189a4884 rdf:first sg:person.012310667352.11
169 rdf:rest Na9ef485fbf794694a9aab9e2ea93fe9b
170 Nc0245a0a8116494b8a9d6bd12261e8d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Enzymes
172 rdf:type schema:DefinedTerm
173 Nc6cc38c4fc5f446c91944a1e7fa8d23a schema:name pubmed_id
174 schema:value 2445576
175 rdf:type schema:PropertyValue
176 Nced70f98d36a4d62a0623d6efb3026ee rdf:first sg:person.016377007734.43
177 rdf:rest N4cb6e2b37c5d4464b882419e1424d68f
178 Ndacaf3e7f76c43ae81c23c043ec2c59a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Refsum Disease
180 rdf:type schema:DefinedTerm
181 Ne715a24718d64ab4b6bb2c0c85821ec9 rdf:first sg:person.01313662471.14
182 rdf:rest Nb41d310dcb4d445eb054112ebaf8139e
183 Nf3d6548192684311b4896a07445f9bc2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name Male
185 rdf:type schema:DefinedTerm
186 Nfea04b758abe4ca9b21c52fa34b00f18 schema:volumeNumber 146
187 rdf:type schema:PublicationVolume
188 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
189 schema:name Medical and Health Sciences
190 rdf:type schema:DefinedTerm
191 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
192 schema:name Neurosciences
193 rdf:type schema:DefinedTerm
194 sg:journal.1017354 schema:issn 0340-6199
195 1432-1076
196 schema:name European Journal of Pediatrics
197 rdf:type schema:Periodical
198 sg:person.0100737426.09 schema:affiliation https://www.grid.ac/institutes/grid.413784.d
199 schema:familyName Odièvre
200 schema:givenName M.
201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100737426.09
202 rdf:type schema:Person
203 sg:person.01040013733.53 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
204 schema:familyName Monnens
205 schema:givenName L.
206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040013733.53
207 rdf:type schema:Person
208 sg:person.012310667352.11 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
209 schema:familyName Wanders
210 schema:givenName R. J. A.
211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012310667352.11
212 rdf:type schema:Person
213 sg:person.012436416414.28 schema:affiliation https://www.grid.ac/institutes/grid.7177.6
214 schema:familyName Schram
215 schema:givenName A. W.
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012436416414.28
217 rdf:type schema:Person
218 sg:person.01250000003.90 schema:affiliation https://www.grid.ac/institutes/grid.8767.e
219 schema:familyName Roels
220 schema:givenName F.
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250000003.90
222 rdf:type schema:Person
223 sg:person.01313662471.14 schema:affiliation https://www.grid.ac/institutes/grid.8767.e
224 schema:familyName Cornelis
225 schema:givenName A.
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313662471.14
227 rdf:type schema:Person
228 sg:person.013377372542.45 schema:affiliation https://www.grid.ac/institutes/grid.413784.d
229 schema:familyName Saudubray
230 schema:givenName J. M.
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013377372542.45
232 rdf:type schema:Person
233 sg:person.013445265144.36 schema:affiliation https://www.grid.ac/institutes/grid.413784.d
234 schema:familyName Ogier
235 schema:givenName H. A. M.
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013445265144.36
237 rdf:type schema:Person
238 sg:person.015061171357.54 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
239 schema:familyName Schutgens
240 schema:givenName R. B. H.
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015061171357.54
242 rdf:type schema:Person
243 sg:person.016377007734.43 schema:affiliation https://www.grid.ac/institutes/grid.413784.d
244 schema:familyName Poll-The
245 schema:givenName B. T.
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016377007734.43
247 rdf:type schema:Person
248 sg:person.016570754727.14 schema:affiliation https://www.grid.ac/institutes/grid.4830.f
249 schema:familyName Govaerts
250 schema:givenName L. C. P.
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016570754727.14
252 rdf:type schema:Person
253 sg:person.0627746335.85 schema:affiliation https://www.grid.ac/institutes/grid.7177.6
254 schema:familyName Tager
255 schema:givenName J. M.
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627746335.85
257 rdf:type schema:Person
258 sg:person.070056160.72 schema:affiliation https://www.grid.ac/institutes/grid.413784.d
259 schema:familyName Scotto
260 schema:givenName J. M.
261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.070056160.72
262 rdf:type schema:Person
263 sg:pub.10.1007/bf00441495 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048767423
264 https://doi.org/10.1007/bf00441495
265 rdf:type schema:CreativeWork
266 sg:pub.10.1007/bf00441734 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033665400
267 https://doi.org/10.1007/bf00441734
268 rdf:type schema:CreativeWork
269 sg:pub.10.1007/bf00441753 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007887012
270 https://doi.org/10.1007/bf00441753
271 rdf:type schema:CreativeWork
272 sg:pub.10.1007/bf00441876 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036414422
273 https://doi.org/10.1007/bf00441876
274 rdf:type schema:CreativeWork
275 sg:pub.10.1007/bf00442740 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032741756
276 https://doi.org/10.1007/bf00442740
277 rdf:type schema:CreativeWork
278 sg:pub.10.1007/bf00446057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035379757
279 https://doi.org/10.1007/bf00446057
280 rdf:type schema:CreativeWork
281 sg:pub.10.1007/bf00685001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029661868
282 https://doi.org/10.1007/bf00685001
283 rdf:type schema:CreativeWork
284 sg:pub.10.1007/bf01468803 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031943701
285 https://doi.org/10.1007/bf01468803
286 rdf:type schema:CreativeWork
287 sg:pub.10.1007/bf01799073 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050778785
288 https://doi.org/10.1007/bf01799073
289 rdf:type schema:CreativeWork
290 sg:pub.10.1007/bf01799455 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045516579
291 https://doi.org/10.1007/bf01799455
292 rdf:type schema:CreativeWork
293 sg:pub.10.1007/bf01799998 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001860761
294 https://doi.org/10.1007/bf01799998
295 rdf:type schema:CreativeWork
296 sg:pub.10.1007/bf01805476 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027309225
297 https://doi.org/10.1007/bf01805476
298 rdf:type schema:CreativeWork
299 sg:pub.10.1007/bf01811412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005534702
300 https://doi.org/10.1007/bf01811412
301 rdf:type schema:CreativeWork
302 sg:pub.10.1038/306069a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048522533
303 https://doi.org/10.1038/306069a0
304 rdf:type schema:CreativeWork
305 sg:pub.10.1203/00006450-198203000-00002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046059177
306 https://doi.org/10.1203/00006450-198203000-00002
307 rdf:type schema:CreativeWork
308 https://app.dimensions.ai/details/publication/pub.1076311140 schema:CreativeWork
309 https://app.dimensions.ai/details/publication/pub.1082145677 schema:CreativeWork
310 https://app.dimensions.ai/details/publication/pub.1082196517 schema:CreativeWork
311 https://doi.org/10.1002/ajmg.1320160409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031121467
312 rdf:type schema:CreativeWork
313 https://doi.org/10.1002/ajmg.1320190420 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045235753
314 rdf:type schema:CreativeWork
315 https://doi.org/10.1002/ajmg.1320250210 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022408936
316 rdf:type schema:CreativeWork
317 https://doi.org/10.1002/ana.410120507 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006597245
318 rdf:type schema:CreativeWork
319 https://doi.org/10.1002/pd.1970050506 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011647064
320 rdf:type schema:CreativeWork
321 https://doi.org/10.1007/bf01799073 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050778785
322 rdf:type schema:CreativeWork
323 https://doi.org/10.1007/bf01799455 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045516579
324 rdf:type schema:CreativeWork
325 https://doi.org/10.1007/bf01799998 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001860761
326 rdf:type schema:CreativeWork
327 https://doi.org/10.1007/bf01811412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005534702
328 rdf:type schema:CreativeWork
329 https://doi.org/10.1016/0006-291x(85)90322-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049026138
330 rdf:type schema:CreativeWork
331 https://doi.org/10.1016/0022-510x(80)90169-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023568219
332 rdf:type schema:CreativeWork
333 https://doi.org/10.1016/0022-510x(85)90003-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014391004
334 rdf:type schema:CreativeWork
335 https://doi.org/10.1016/0968-0004(83)90077-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029262351
336 rdf:type schema:CreativeWork
337 https://doi.org/10.1016/s0006-291x(84)80240-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010451068
338 rdf:type schema:CreativeWork
339 https://doi.org/10.1016/s0022-3476(81)80393-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051388756
340 rdf:type schema:CreativeWork
341 https://doi.org/10.1016/s0022-3476(86)80764-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051027221
342 rdf:type schema:CreativeWork
343 https://doi.org/10.1016/s0022-3476(86)80765-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1005500812
344 rdf:type schema:CreativeWork
345 https://doi.org/10.1056/nejm198405033101802 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019200844
346 rdf:type schema:CreativeWork
347 https://doi.org/10.1056/nejm198502143120717 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002298155
348 rdf:type schema:CreativeWork
349 https://doi.org/10.1056/nejm198507183130322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032201658
350 rdf:type schema:CreativeWork
351 https://doi.org/10.1056/nejm198603203141216 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036277671
352 rdf:type schema:CreativeWork
353 https://doi.org/10.1111/j.1399-0004.1984.tb01107.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1052158701
354 rdf:type schema:CreativeWork
355 https://doi.org/10.1111/j.1399-0004.1985.tb00246.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1023067115
356 rdf:type schema:CreativeWork
357 https://doi.org/10.1126/science.182.4107.62 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062508279
358 rdf:type schema:CreativeWork
359 https://doi.org/10.1126/science.3964959 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062622672
360 rdf:type schema:CreativeWork
361 https://doi.org/10.1126/science.424737 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062624796
362 rdf:type schema:CreativeWork
363 https://doi.org/10.1177/27.11.92501 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039475029
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1212/wnl.34.12.1606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064365199
366 rdf:type schema:CreativeWork
367 https://doi.org/10.3109/00365518409083839 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003964570
368 rdf:type schema:CreativeWork
369 https://doi.org/10.3109/00365518509155292 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015522285
370 rdf:type schema:CreativeWork
371 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
372 schema:name Department of Pediatrics, University Hospital, Nijmegen, The Netherlands
373 rdf:type schema:Organization
374 https://www.grid.ac/institutes/grid.16872.3a schema:alternateName VU University Medical Center
375 schema:name Department of Pediatrics, University Hospital of Amsterdam, Amsterdam, The Netherlands
376 rdf:type schema:Organization
377 https://www.grid.ac/institutes/grid.413784.d schema:alternateName Bicêtre Hospital
378 schema:name Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris, France
379 Hôpital Antoine Béclère, Paris, France
380 Hôpital de Bicêtre INSERM U. 56, Paris, France
381 rdf:type schema:Organization
382 https://www.grid.ac/institutes/grid.4830.f schema:alternateName University of Groningen
383 schema:name Department for Anthropogenetics, State University of Groningen, The Netherlands
384 rdf:type schema:Organization
385 https://www.grid.ac/institutes/grid.7177.6 schema:alternateName University of Amsterdam
386 schema:name Laboratory of Biochemistry, University of Amsterdam, Amsterdam, The Netherlands
387 rdf:type schema:Organization
388 https://www.grid.ac/institutes/grid.8767.e schema:alternateName Vrije Universiteit Brussel
389 schema:name Laboratorium voor Menselijke Anatomie, Fakulteit Geneeskunde en Farmacie, Vrije Universiteit, Brussels, Belgium
390 rdf:type schema:Organization
 




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


...