{"id":"https://openalex.org/W2147357144","doi":"https://doi.org/10.1136/jmg.2009.074302","title":"Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene","display_name":"Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene","publication_year":2010,"publication_date":"2010-07-20","ids":{"openalex":"https://openalex.org/W2147357144","doi":"https://doi.org/10.1136/jmg.2009.074302","mag":"2147357144","pmid":"https://pubmed.ncbi.nlm.nih.gov/20647552"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.2009.074302","doi":"https://doi.org/10.1136/jmg.2009.074302","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmg.2009.074302","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://handle.uba.uva.nl/personal/pure/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(32ca6dc4-406f-420e-ba6a-1204d3377d75).html","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061810798","display_name":"Merel S. Ebberink","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Merel S Ebberink","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029085499","display_name":"Barbara Cs\u00e1nyi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Barbara Csanyi","raw_affiliation_strings":["Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK","Biochemistry Research Group, UCL Institute of Child Health, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK","institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Biochemistry Research Group, UCL Institute of Child Health, London, United Kingdom","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083530806","display_name":"Wui Khean Chong","orcid":"https://orcid.org/0000-0002-4335-3864","observed_orcids":["https://orcid.org/0000-0002-4335-3864","https://orcid.org/0000-0002-3840-9771","https://orcid.org/0009-0005-6701-4268"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["GB","NL"],"is_corresponding":false,"raw_author_name":"Wui K Chong","raw_affiliation_strings":["Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111448109","display_name":"Simone W. Denis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Simone Denis","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024868083","display_name":"Peter J. Sharp","orcid":"https://orcid.org/0000-0003-4410-3514","observed_orcids":["https://orcid.org/0000-0003-4410-3514"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Peter Sharp","raw_affiliation_strings":["National Referral Laboratory, SA Pathology, North Adelaide, Australia","National Referral Laboratory, SA Pathology, North Adelaide"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Referral Laboratory, SA Pathology, North Adelaide, Australia","institution_ids":["https://openalex.org/I107656453"]},{"raw_affiliation_string":"National Referral Laboratory, SA Pathology, North Adelaide","institution_ids":["https://openalex.org/I107656453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090235581","display_name":"Petra A.W. Mooijer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Petra A W Mooijer","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111960096","display_name":"Conny Dekker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Conny J M Dekker","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022465361","display_name":"Claire G. Spooner","orcid":"https://orcid.org/0000-0002-0409-2905","observed_orcids":["https://orcid.org/0000-0002-0409-2905"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210114327","display_name":"Auckland District Health Board","ror":"https://ror.org/02gkb4040","country_code":"NZ","type":"healthcare","lineage":["https://openalex.org/I4210114327","https://openalex.org/I4405259026"]},{"id":"https://openalex.org/I4210144401","display_name":"Starship Children's Health","ror":"https://ror.org/04sh9kd82","country_code":"NZ","type":"healthcare","lineage":["https://openalex.org/I4210144401"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL","NZ"],"is_corresponding":false,"raw_author_name":"Claire Spooner","raw_affiliation_strings":["Starship Children's Hospital, Auckland District Health Board, Auckland, New Zealand","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Starship Children's Hospital, Auckland District Health Board, Auckland, New Zealand","institution_ids":["https://openalex.org/I4210114327","https://openalex.org/I4210144401"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080628862","display_name":"Lock Hock Ngu","orcid":"https://orcid.org/0000-0002-2396-1686","observed_orcids":["https://orcid.org/0000-0002-2396-1686"]},"institutions":[{"id":"https://openalex.org/I2799421553","display_name":"Hospital Kuala Lumpur","ror":"https://ror.org/03n0nnh89","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I2799421553"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["MY","NL"],"is_corresponding":false,"raw_author_name":"Lock H Ngu","raw_affiliation_strings":["Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia","institution_ids":["https://openalex.org/I2799421553"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103550484","display_name":"Carlos de Sousa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["GB","NL"],"is_corresponding":false,"raw_author_name":"Carlos De Sousa","raw_affiliation_strings":["Department of Neurology, Great Ormond Street Hospital for Children NHS Trust, London, UK","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Great Ormond Street Hospital for Children NHS Trust, London, UK","institution_ids":["https://openalex.org/I2800129641"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"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/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ronald J A Wanders","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael J Fietz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["AU","NL"],"is_corresponding":false,"raw_author_name":"Michael J Fietz","raw_affiliation_strings":["National Referral Laboratory, SA Pathology, North Adelaide, Australia","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Referral Laboratory, SA Pathology, North Adelaide, Australia","institution_ids":["https://openalex.org/I107656453"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049060827","display_name":"Peter Theodore Clayton","orcid":"https://orcid.org/0000-0001-7592-4302","observed_orcids":["https://orcid.org/0000-0001-7592-4302","https://orcid.org/0000-0003-1225-4537"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["GB","NL"],"is_corresponding":false,"raw_author_name":"Peter T Clayton","raw_affiliation_strings":["Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Research Group, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK","institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057865344","display_name":"Hans R. Waterham","orcid":"https://orcid.org/0000-0001-5147-7106","observed_orcids":["https://orcid.org/0000-0001-5147-7106"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hans R Waterham","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009514619","display_name":"Sacha Ferdinandusse","orcid":"https://orcid.org/0000-0002-7738-5709","observed_orcids":["https://orcid.org/0000-0002-7738-5709"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4210096594","display_name":"Emma Kinderziekenhuis","ror":"https://ror.org/00bmv4102","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Sacha Ferdinandusse","raw_affiliation_strings":["Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"]},{"raw_affiliation_string":"Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases","institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I887064364"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5009514619"],"corresponding_institution_ids":["https://openalex.org/I2802928900","https://openalex.org/I4210096594","https://openalex.org/I887064364"],"apc_list":null,"apc_paid":null,"fwci":2.8665,"has_fulltext":true,"cited_by_count":94,"citation_normalized_percentile":{"value":0.89928361,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"47","issue":"9","first_page":"608","last_page":"615"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9721999764442444,"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":0.9721999764442444,"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":0.009399999864399433,"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":0.0035000001080334187,"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/pex16","display_name":"PEX16","score":0.8289999961853027},{"id":"https://openalex.org/keywords/peroxisome-biogenesis-disorders","display_name":"peroxisome biogenesis disorders","score":0.9079999923706055},{"id":"https://openalex.org/keywords/novel-homozygous-variant","display_name":"novel homozygous mutation","score":0.7120000123977661},{"id":"https://openalex.org/keywords/mild-phenotype","display_name":"mild phenotype","score":0.5090000033378601},{"id":"https://openalex.org/keywords/spastic-paraparesis","display_name":"spastic paraparesis","score":0.7889999747276306},{"id":"https://openalex.org/keywords/ataxia","display_name":"ataxia","score":0.9660000205039978},{"id":"https://openalex.org/keywords/leukodystrophy","display_name":"leukodystrophy","score":0.9229999780654907},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.8050000071525574},{"id":"https://openalex.org/keywords/cataract","display_name":"cataract","score":0.9380000233650208},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":1.0},{"id":"https://openalex.org/keywords/peroxisomal-matrix-protein-import","display_name":"peroxisomal matrix protein import","score":0.753000020980835},{"id":"https://openalex.org/keywords/fibroblast-ultrastructure","display_name":"fibroblast ultrastructure","score":0.6119999885559082}],"concepts":[{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.8330186605453491},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.7522145509719849},{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.6906226873397827},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6282864809036255},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.5924063920974731},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5091494917869568},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.48577645421028137},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4350176751613617},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4086548984050751}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002374","descriptor_name":"Catalase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005455","descriptor_name":"Fluorescent Antibody Technique","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005816","descriptor_name":"Genetic Complementation Test","qualifier_ui":null,"qualifier_name":null,"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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020675","descriptor_name":"Peroxisomes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020675","descriptor_name":"Peroxisomes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1136/jmg.2009.074302","doi":"https://doi.org/10.1136/jmg.2009.074302","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmg.2009.074302","pdf_url":null,"source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:20647552","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20647552","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":"Journal of medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:dare.uva.nl:openaire/32ca6dc4-406f-420e-ba6a-1204d3377d75","doi":null,"is_oa":true,"landing_page_url":"https://handle.uba.uva.nl/personal/pure/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(32ca6dc4-406f-420e-ba6a-1204d3377d75).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400088","display_name":"UvA-DARE (University of Amsterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I887064364","host_organization_name":"University of Amsterdam","host_organization_lineage":["https://openalex.org/I887064364"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ebberink, M S, Csanyi, B, Chong, W K, Denis, S, Sharp, P, Mooijer, P A W, Dekker, C J M, Spooner, C, Ngu, L H, de Sousa, C, Wanders, R J A, Fietz, M J, Clayton, P T, Waterham, H R & Ferdinandusse, S 2010, 'Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene', Journal of Medical Genetics, vol. 47, no. 9, pp. 608-615. https://doi.org/10.1136/jmg.2009.074302","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:uvapub:oai:dare.uva.nl:publications/32ca6dc4-406f-420e-ba6a-1204d3377d75","doi":null,"is_oa":true,"landing_page_url":"https://dare.uva.nl/personal/pure/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(32ca6dc4-406f-420e-ba6a-1204d3377d75).html","pdf_url":"https://dare.uva.nl/personal/pure/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(32ca6dc4-406f-420e-ba6a-1204d3377d75).html","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 47(9), 608 - 615. BMJ Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/444d876b-32d9-4eb3-af46-029afa4fe0cf","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(444d876b-32d9-4eb3-af46-029afa4fe0cf).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":"Journal of medical genetics, 47(9), 608 - 615. BMJ Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:HAL:hal-00557382v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/hal-00557382","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"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":"Journal of Medical Genetics, 2010, 47 (9), pp.608. &#x27E8;10.1136/jmg.2009.074302&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:704604","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/704604/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J MED GENET , 47 (9) 608 - 615. (2010)","raw_type":"Article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/3680a7a4-71a1-4f21-b528-1bb821f2c01b","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/3680a7a4-71a1-4f21-b528-1bb821f2c01b","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ebberink, M S, Csanyi, B, Chong, W K, Denis, S, Sharp, P, Mooijer, P A W, Dekker, C J M, Spooner, C, Ngu, L H, de Sousa, C, Wanders, R J A, Fietz, M J, Clayton, P T, Waterham, H R & Ferdinandusse, S 2010, 'Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene', Journal of medical genetics, vol. 47, no. 9, pp. 608-615. https://doi.org/10.1136/jmg.2009.074302","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:tara.tcd.ie:2262/49482","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2262/49482","pdf_url":null,"source":{"id":"https://openalex.org/S4306400387","display_name":"Trinity's Access to Research Output (TARA) (Trinity College Dublin)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205274468","host_organization_name":"Trinity College Dublin","host_organization_lineage":["https://openalex.org/I205274468"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":null}],"best_oa_location":{"id":"pmh:oai:dare.uva.nl:openaire/32ca6dc4-406f-420e-ba6a-1204d3377d75","doi":null,"is_oa":true,"landing_page_url":"https://handle.uba.uva.nl/personal/pure/en/publications/identification-of-an-unusual-variant-peroxisome-biogenesis-disorder-caused-by-mutations-in-the-pex16-gene(32ca6dc4-406f-420e-ba6a-1204d3377d75).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400088","display_name":"UvA-DARE (University of Amsterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I887064364","host_organization_name":"University of Amsterdam","host_organization_lineage":["https://openalex.org/I887064364"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ebberink, M S, Csanyi, B, Chong, W K, Denis, S, Sharp, P, Mooijer, P A W, Dekker, C J M, Spooner, C, Ngu, L H, de Sousa, C, Wanders, R J A, Fietz, M J, Clayton, P T, Waterham, H R & Ferdinandusse, S 2010, 'Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene', Journal of Medical Genetics, vol. 47, no. 9, pp. 608-615. https://doi.org/10.1136/jmg.2009.074302","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320321800","display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","ror":"https://ror.org/04jsz6e67"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2147357144.pdf","grobid_xml":"https://content.openalex.org/works/W2147357144.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W171263212","https://openalex.org/W1483242733","https://openalex.org/W1572431895","https://openalex.org/W1999036209","https://openalex.org/W2014664955","https://openalex.org/W2016484726","https://openalex.org/W2034696170","https://openalex.org/W2039678360","https://openalex.org/W2042129851","https://openalex.org/W2050227546","https://openalex.org/W2056805199","https://openalex.org/W2062612646","https://openalex.org/W2080265584","https://openalex.org/W2081939141","https://openalex.org/W2103186456","https://openalex.org/W2108583379","https://openalex.org/W2111781163","https://openalex.org/W2132815603","https://openalex.org/W2156308683","https://openalex.org/W2171642486","https://openalex.org/W3214856536","https://openalex.org/W4242344781","https://openalex.org/W4244786810","https://openalex.org/W4250379430"],"related_works":["https://openalex.org/W2887868549","https://openalex.org/W2882976944","https://openalex.org/W4210501428","https://openalex.org/W2080265584","https://openalex.org/W1967424027","https://openalex.org/W2264025114","https://openalex.org/W2529516790","https://openalex.org/W2741594595","https://openalex.org/W2011345680","https://openalex.org/W2898103978"],"abstract_inverted_index":{"BACKGROUND:":[0],"Zellweger":[1],"syndrome":[2],"spectrum":[3],"disorders":[4],"are":[5],"caused":[6,192],"by":[7,193],"mutations":[8,84,180,194],"in":[9,29,51,61,85,91,140,162,166,181,195,209,217,229],"any":[10],"of":[11,54,65,105,156,170,237],"at":[12],"least":[13],"12":[14],"different":[15],"PEX":[16,173],"genes.":[17],"This":[18,231],"includes":[19],"PEX16,":[20],"which":[21,159],"encodes":[22],"an":[23,75,206],"integral":[24],"peroxisomal":[25,30,55,66,136,218,241],"membrane":[26,31,58,219],"protein":[27],"involved":[28,216],"assembly.":[32],"PEX16-defective":[33],"patients":[34,47,73,238],"have":[35,39],"been":[36],"reported":[37],"to":[38,83],"a":[40,49,62,102,135,200,240],"severe":[41],"clinical":[42,203],"presentation.":[43],"Fibroblasts":[44],"from":[45],"these":[46],"displayed":[48],"defect":[50],"the":[52,86,92,148,154,182,196],"import":[53],"matrix":[56],"and":[57,99,108,114,118,205],"proteins,":[59],"resulting":[60],"total":[63],"absence":[64],"remnants.":[67],"OBJECTIVE:":[68],"To":[69],"report":[70],"on":[71,111],"six":[72],"with":[74,95,199,225,239],"unexpected":[76,207],"mild":[77,202],"variant":[78,188],"peroxisome":[79,189],"biogenesis":[80,190],"disorder":[81,191],"due":[82],"PEX16":[87,183,197,214,221],"gene.":[88,184],"Patients":[89],"presented":[90],"preschool":[93],"years":[94],"progressive":[96,106],"spastic":[97],"paraparesis":[98],"ataxia":[100],"(with":[101],"characteristic":[103],"pattern":[104],"leucodystrophy":[107],"brain":[109],"atrophy":[110],"MRI":[112],"scan)":[113],"later":[115],"developed":[116],"cataracts":[117],"peripheral":[119],"neuropathy.":[120],"Surprisingly,":[121],"their":[122],"fibroblasts":[123,141],"showed":[124],"enlarged,":[125],"import-competent":[126,157,227],"peroxisomes.":[127],"RESULTS:":[128],"Plasma":[129],"analysis":[130],"revealed":[131,153,175],"biochemical":[132],"abnormalities":[133],"suggesting":[134],"disorder.":[137,242],"Biochemical":[138],"variables":[139],"were":[142,160],"only":[143],"mildly":[144],"abnormal":[145],"or":[146],"within":[147],"normal":[149],"range.":[150],"Immunofluorescence":[151],"microscopy":[152],"presence":[155],"peroxisomes,":[158],"increased":[161],"size":[163],"but":[164],"reduced":[165],"number.":[167],"Subsequent":[168],"sequencing":[169],"all":[171],"known":[172],"genes":[174],"five":[176],"novel":[177],"apparent":[178],"homozygous":[179],"CONCLUSIONS:":[185],"An":[186],"unusual":[187],"gene,":[198],"relatively":[201],"phenotype":[204,208],"fibroblasts,":[210],"was":[211],"identified.":[212],"Although":[213],"is":[215,232],"assembly,":[220],"defects":[222],"can":[223],"present":[224],"enlarged":[226],"peroxisomes":[228],"fibroblasts.":[230],"important":[233],"for":[234],"future":[235],"diagnostics":[236]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
