{"id":"https://openalex.org/W2119082770","doi":"https://doi.org/10.1212/wnl.51.5.1427","title":"Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease","display_name":"Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease","publication_year":1998,"publication_date":"1998-11-01","ids":{"openalex":"https://openalex.org/W2119082770","doi":"https://doi.org/10.1212/wnl.51.5.1427","mag":"2119082770","pmid":"https://pubmed.ncbi.nlm.nih.gov/9818873"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.51.5.1427","doi":"https://doi.org/10.1212/wnl.51.5.1427","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.51.5.1427","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.zora.uzh.ch/id/eprint/181063/1/1427.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044915027","display_name":"Matthias R. Baumgartner","orcid":"https://orcid.org/0000-0002-9270-0826","observed_orcids":["https://orcid.org/0000-0002-9270-0826"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"M. R. Baumgartner","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061187532","display_name":"Nanda M. Verhoeven\u2010Duif","orcid":"https://orcid.org/0000-0002-2016-5182","observed_orcids":["https://orcid.org/0000-0002-2016-5182"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"N. M. Verhoeven","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. Jacobs","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"C. Jacobs","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036235365","display_name":"Frank Roels","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"F. Roels","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025693731","display_name":"Marc Espeel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"M. Espeel","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102249161","display_name":"Manuela Mart\u00ednez","orcid":"https://orcid.org/0000-0003-1624-4096","observed_orcids":["https://orcid.org/0000-0003-1624-4096"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"M. Martinez","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110037799","display_name":"Daniel Rabier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"D. Rabier","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040743356","display_name":"Ronald J. A. Wanders","orcid":"https://orcid.org/0000-0001-7818-1452","observed_orcids":["https://orcid.org/0000-0001-7818-1452"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"R.J.A. Wanders","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062746059","display_name":"Jean\u2010Marie Saudubray","orcid":"https://orcid.org/0000-0003-2010-9831","observed_orcids":["https://orcid.org/0000-0003-2010-9831"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE","FR"],"is_corresponding":false,"raw_author_name":"J. M. Saudubray","raw_affiliation_strings":["From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Pediatrics (Drs. Baumgartner and Saudubray) and Biochemistry (Dr. Rabier), Ho\u0302pital Necker-Enfants Malades, Paris, France; Department of Clinical Chemistry (N.M. Verhoeven and Dr. Jakobs), Metabolic Unit, Free University Hospital, Amsterdam, The Netherlands; Department of Human Anatomy (Drs. Roels and Espeel), Embryology and Histology, University of Ghent, Belgium; Biomedical Research Unit (Dr. Martinez), Hospital Valle de Hebron, Barcelona, Spain; and the Departments of","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I32597200"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.5274,"has_fulltext":false,"cited_by_count":42,"citation_normalized_percentile":{"value":0.81427581,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"51","issue":"5","first_page":"1427","last_page":"1432"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9926999807357788,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9926999807357788,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.002199999988079071,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/peroxisome-biogenesis-disorders","display_name":"peroxisome biogenesis disorders","score":0.9259999990463257},{"id":"https://openalex.org/keywords/werdnig-hoffmann-disease","display_name":"Werdnig-Hoffmann disease","score":0.9139999747276306},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.7059999704360962},{"id":"https://openalex.org/keywords/spinal-muscular-atrophy","display_name":"spinal muscular atrophy","score":0.7710000276565552},{"id":"https://openalex.org/keywords/peroxisomal-beta-oxidation","display_name":"peroxisomal beta-oxidation","score":0.8740000128746033},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9309999942779541},{"id":"https://openalex.org/keywords/neuromuscular-disorders","display_name":"neuromuscular disorders","score":0.6790000200271606}],"concepts":[{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.8991594314575195},{"id":"https://openalex.org/C2779611823","wikidata":"https://www.wikidata.org/wiki/Q421171","display_name":"Phytanic acid","level":4,"score":0.8870749473571777},{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.8604521751403809},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.774163007736206},{"id":"https://openalex.org/C2780865232","wikidata":"https://www.wikidata.org/wiki/Q7197255","display_name":"Pipecolic acid","level":3,"score":0.6217864751815796},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4865990877151489},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.4103561043739319},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4096483290195465},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.38044849038124084},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.37588363885879517},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.33521461486816406},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2871345281600952},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.07431766390800476},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001647","descriptor_name":"Bile Acids and Salts","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004912","descriptor_name":"Erythrocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005230","descriptor_name":"Fatty Acids, Nonesterified","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007360","descriptor_name":"Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D010875","descriptor_name":"Pipecolic Acids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D010875","descriptor_name":"Pipecolic Acids","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D014897","descriptor_name":"Spinal Muscular Atrophies of Childhood","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D014897","descriptor_name":"Spinal Muscular Atrophies of Childhood","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014897","descriptor_name":"Spinal Muscular Atrophies of Childhood","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D015211","descriptor_name":"Zellweger Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D015211","descriptor_name":"Zellweger Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015211","descriptor_name":"Zellweger Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1212/wnl.51.5.1427","doi":"https://doi.org/10.1212/wnl.51.5.1427","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.51.5.1427","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:9818873","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9818873","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"Case Reports"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/496423b9-96b9-4c5f-96d6-3bfadc868939","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/496423b9-96b9-4c5f-96d6-3bfadc868939","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Baumgartner, M R, Verhoeven, N M, Jakobs, C, Roels, F, Espeel, M, Martinez, M, Rabier, D, Wanders, R J & Saudubray, J M 1998, 'Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease', Neurology, vol. 51, no. 5, pp. 1427-1432.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.zora.uzh.ch:181063","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/id/eprint/181063/1/1427.full.pdf","pdf_url":"https://www.zora.uzh.ch/id/eprint/181063/1/1427.full.pdf","source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Baumgartner, Matthias R; Verhoeven, N M; Jacobs, C; Roels, F; Espeel, M; Martinez, M; Rabier, D; Wanders, R J A; Saudubray, J M (1998). Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease. Neurology, 51(5):1427-1432.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/4d4da673-3b82-405d-a3df-0dc9c8bfef7c","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/defective-peroxisome-biogenesis-with-a-neuromuscular-disorder-resembling-werdnighoffmann-disease(4d4da673-3b82-405d-a3df-0dc9c8bfef7c).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neurology, 51(5), 1427 - 1432. Lippincott Williams and Wilkins","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:archive.ugent.be:180716","doi":null,"is_oa":false,"landing_page_url":"https://biblio.ugent.be/publication/180716","pdf_url":null,"source":{"id":"https://openalex.org/S4306400478","display_name":"Ghent University Academic Bibliography (Ghent University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I32597200","host_organization_name":"Ghent University","host_organization_lineage":["https://openalex.org/I32597200"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ISSN: 0028-3878","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.zora.uzh.ch:20.500.14742/165225","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/handle/20.500.14742/165225","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Baumgartner, M. R., Verhoeven, N. M., Jacobs, C., Roels, F., Espeel, M., Martinez, M., Rabier, D., Wanders, R. J. A., & Saudubray, J. M. (1998). Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease. Neurology, 51, 1427\u20131432. https://doi.org/10.1212/wnl.51.5.1427","raw_type":"Journal Article"},{"id":"doi:10.5167/uzh-181063","doi":"https://doi.org/10.5167/uzh-181063","is_oa":true,"landing_page_url":"https://doi.org/10.5167/uzh-181063","pdf_url":null,"source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"pmh:oai:www.zora.uzh.ch:181063","doi":null,"is_oa":true,"landing_page_url":"https://www.zora.uzh.ch/id/eprint/181063/1/1427.full.pdf","pdf_url":"https://www.zora.uzh.ch/id/eprint/181063/1/1427.full.pdf","source":{"id":"https://openalex.org/S4306401281","display_name":"Zurich Open Repository and Archive (University of Zurich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I202697423","host_organization_name":"University of Zurich","host_organization_lineage":["https://openalex.org/I202697423"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Baumgartner, Matthias R; Verhoeven, N M; Jacobs, C; Roels, F; Espeel, M; Martinez, M; Rabier, D; Wanders, R J A; Saudubray, J M (1998). Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease. Neurology, 51(5):1427-1432.","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W198141007","https://openalex.org/W1542980888","https://openalex.org/W1585827402","https://openalex.org/W1608068971","https://openalex.org/W1666654406","https://openalex.org/W1972233492","https://openalex.org/W1981969993","https://openalex.org/W1986810639","https://openalex.org/W1997287624","https://openalex.org/W1998978462","https://openalex.org/W2000673671","https://openalex.org/W2006058432","https://openalex.org/W2008034687","https://openalex.org/W2010165790","https://openalex.org/W2016484726","https://openalex.org/W2045591151","https://openalex.org/W2046742140","https://openalex.org/W2050227546","https://openalex.org/W2053095538","https://openalex.org/W2071299029","https://openalex.org/W2081939141","https://openalex.org/W2121255520","https://openalex.org/W2432765224","https://openalex.org/W4246325803","https://openalex.org/W4256054486"],"related_works":["https://openalex.org/W7037197770","https://openalex.org/W2005389920","https://openalex.org/W2034741570","https://openalex.org/W1990662805","https://openalex.org/W2060220451","https://openalex.org/W4290285158","https://openalex.org/W2080735849","https://openalex.org/W1998517502","https://openalex.org/W2096418737","https://openalex.org/W2057403532"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Characterization":[1],"of":[2,15,31,37,63,119,132,140,154,165,176,210,215,230],"the":[3,120,155,163,180,228],"defect":[4,157,209],"in":[5,77,96,104,110,144,150,158,170,239],"a":[6,9,189,216,223],"patient":[7,178,241],"presenting":[8],"peripheral":[10],"neuropathy":[11],"with":[12,44,73,222,242],"atypical":[13],"features":[14],"distal":[16],"motor":[17],"involvement":[18],"mimicking":[19,219],"Werdnig-Hoffmann":[20,58,220],"disease.":[21,59],"PATIENT:":[22],"Clinical":[23],"signs":[24],"included":[25],"generalized":[26],"hypotonia":[27],"and":[28,40,48,68,89,106,116,127,201],"floppiness,":[29],"absence":[30,131,139],"stretch":[32],"reflexes,":[33],"muscle":[34,54],"wasting,":[35],"lack":[36],"head":[38],"control":[39],"lingual":[41],"fasciculations":[42],"associated":[43],"unaffected":[45],"facial":[46],"muscles,":[47],"normal":[49,74,148],"intellectual":[50],"development.":[51],"RESULTS:":[52],"Normal":[53],"histology":[55],"ruled":[56],"out":[57],"Elevated":[60],"plasma":[61],"concentrations":[62],"very":[64],"long-chain":[65],"fatty":[66],"acids":[67],"bile":[69],"acid":[70,88,102,108,203],"intermediates":[71],"combined":[72],"plasmalogen":[75],"levels":[76],"erythrocytes":[78],"suggested":[79],"defective":[80],"peroxisomal":[81,124,141,156,195,211,225,234],"beta-oxidation":[82,142,196],"directly":[83],"demonstrated":[84],"by":[85,162],"deficient":[86,91],"pristanic":[87],"partially":[90],"C26:0":[92],"was":[93,112,134,160],"present":[94],"oxidation":[95,103,109,204],"cultured":[97],"fibroblasts.":[98,151],"Severely":[99],"impaired":[100],"pipecolic":[101,202],"liver":[105,121,145],"phytanic":[107,200],"fibroblasts":[111,159],"present.":[113],"On":[114],"light":[115],"electron":[117],"microscopy":[118],"tissue,":[122],"rare":[123],"membrane":[125],"ghosts":[126],"trilamellar":[128],"inclusions":[129],"but":[130,147],"peroxisomes":[133],"noted.":[135],"Immunoblot":[136],"analysis":[137],"revealed":[138],"enzymes":[143],"tissue":[146],"results":[149,187],"Remarkably,":[152],"expression":[153],"indicated":[161],"finding":[164],"mainly":[166],"cytoplasmatic":[167],"catalase,":[168],"as":[169,197,199],"liver.":[171],"Preliminary":[172],"studies":[173],"excluded":[174],"classification":[175],"this":[177],"within":[179],"large":[181],"PEX1":[182],"complementation":[183],"group.":[184],"CONCLUSIONS:":[185],"The":[186,213],"suggest":[188],"novel":[190,224],"peroxisome":[191],"biogenesis":[192],"disorder":[193,226],"involving":[194],"well":[198],"rather":[205],"than":[206],"an":[207,243],"isolated":[208],"beta-oxidation.":[212],"association":[214],"clinical":[217],"picture":[218],"disease":[221],"raises":[227],"question":[229],"whether":[231],"investigation":[232],"for":[233],"function":[235],"should":[236],"be":[237],"considered":[238],"every":[240],"enigmatic":[244],"spinal":[245],"muscular":[246],"atrophy-like":[247],"syndrome.":[248]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
