{"id":"https://openalex.org/W2094906736","doi":"https://doi.org/10.1038/clpt.1988.198","title":"Inheritance of poor phenytoin parahydroxylation capacity in a Dutch family","display_name":"Inheritance of poor phenytoin parahydroxylation capacity in a Dutch family","publication_year":1988,"publication_date":"1988-11-01","ids":{"openalex":"https://openalex.org/W2094906736","doi":"https://doi.org/10.1038/clpt.1988.198","mag":"2094906736","pmid":"https://pubmed.ncbi.nlm.nih.gov/3180640"},"language":"en","primary_location":{"id":"doi:10.1038/clpt.1988.198","doi":"https://doi.org/10.1038/clpt.1988.198","is_oa":false,"landing_page_url":"https://doi.org/10.1038/clpt.1988.198","pdf_url":null,"source":{"id":"https://openalex.org/S159852663","display_name":"Clinical Pharmacology & Therapeutics","issn_l":"0009-9236","issn":["0009-9236","1085-8733","1532-6535"],"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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Pharmacology and Therapeutics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5073406580","display_name":"Pieter Vermeij","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"P Vermeij","raw_affiliation_strings":["Department of Neurology, University Hospital of Leiden, The Netherlands","Toxicology Laboratory and the Departments of Neurology and Clinical Genetics University Hospital of Leiden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University Hospital of Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Toxicology Laboratory and the Departments of Neurology and Clinical Genetics University Hospital of Leiden","institution_ids":["https://openalex.org/I121797337"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039941295","display_name":"Michel Dominique Ferrari","orcid":"https://orcid.org/0000-0001-9691-9449","observed_orcids":["https://orcid.org/0000-0001-9691-9449"]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"M D Ferrari","raw_affiliation_strings":["Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082206825","display_name":"Onno J. S. Buruma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"O J S Buruma","raw_affiliation_strings":["Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039464093","display_name":"Henk Veenema","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"H Veenema","raw_affiliation_strings":["Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109285877","display_name":"Frederik A. de Wolff","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121797337","display_name":"Leiden University","ror":"https://ror.org/027bh9e22","country_code":"NL","type":"education","lineage":["https://openalex.org/I121797337"]},{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"F A de Wolff","raw_affiliation_strings":["Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Toxicology Laboratory and the Departments of Neurology and Clinical Genetics, University Hospital of Leiden","institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5109285877"],"corresponding_institution_ids":["https://openalex.org/I121797337","https://openalex.org/I2800006345"],"apc_list":{"value":4410,"currency":"USD","value_usd":4410},"apc_paid":null,"fwci":2.818,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.90157906,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":null,"biblio":{"volume":"44","issue":"5","first_page":"588","last_page":"593"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11465","display_name":"Drug-Induced Hepatotoxicity and Protection","score":0.0,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/phenytoin","display_name":"phenytoin","score":0.9710000157356262},{"id":"https://openalex.org/keywords/drug-metabolism","display_name":"drug metabolism","score":0.5519999861717224},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7459999918937683},{"id":"https://openalex.org/keywords/phenytoin-intoxication","display_name":"phenytoin intoxication","score":0.8159999847412109},{"id":"https://openalex.org/keywords/metabolic-ratio","display_name":"metabolic ratio","score":0.5879999995231628},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.5789999961853027},{"id":"https://openalex.org/keywords/genetic-polymorphism","display_name":"genetic polymorphism","score":0.48100000619888306},{"id":"https://openalex.org/keywords/antiepileptic-drugs","display_name":"antiepileptic drugs","score":0.8209999799728394}],"concepts":[{"id":"https://openalex.org/C2778337148","wikidata":"https://www.wikidata.org/wiki/Q410400","display_name":"Phenytoin","level":3,"score":0.9491140246391296},{"id":"https://openalex.org/C2781109383","wikidata":"https://www.wikidata.org/wiki/Q898497","display_name":"Hydroxylation","level":3,"score":0.5080023407936096},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.49369916319847107},{"id":"https://openalex.org/C2777477808","wikidata":"https://www.wikidata.org/wiki/Q407595","display_name":"Metabolite","level":2,"score":0.491685688495636},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4469149708747864},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.34801971912384033},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.3226916790008545},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26958054304122925},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.14182257652282715},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.08766195178031921},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D006900","descriptor_name":"Hydroxylation","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009426","descriptor_name":"Netherlands","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010672","descriptor_name":"Phenytoin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D010672","descriptor_name":"Phenytoin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/clpt.1988.198","doi":"https://doi.org/10.1038/clpt.1988.198","is_oa":false,"landing_page_url":"https://doi.org/10.1038/clpt.1988.198","pdf_url":null,"source":{"id":"https://openalex.org/S159852663","display_name":"Clinical Pharmacology & Therapeutics","issn_l":"0009-9236","issn":["0009-9236","1085-8733","1532-6535"],"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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Pharmacology and Therapeutics","raw_type":"journal-article"},{"id":"pmid:3180640","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3180640","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":"Clinical pharmacology and therapeutics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1986799598","https://openalex.org/W1983244412","https://openalex.org/W1991163272","https://openalex.org/W2170503631","https://openalex.org/W1837898991","https://openalex.org/W2015769536","https://openalex.org/W343603511","https://openalex.org/W2125732432","https://openalex.org/W1990703039","https://openalex.org/W2053185529"],"abstract_inverted_index":{"The":[0,39,63],"mode":[1,176],"of":[2,4,13,28,41,59,74,80,90,101,117,139,157,177,179],"inheritance":[3,178],"insufficient":[5,26],"phenytoin":[6,22,42],"p-hydroxylation":[7],"was":[8,33,44,111],"studied":[9],"in":[10,50],"the":[11,47,84,91,115,118,123,150,175],"family":[12,32,88],"a":[14,21,36,65,68,77,98,136,154],"patient":[15],"who":[16],"had":[17],"previously":[18],"suffered":[19],"from":[20,46],"intoxication":[23],"caused":[24],"by":[25],"metabolism":[27,43],"this":[29,180],"drug.":[30],"This":[31],"compared":[34],"with":[35,76,122,135,153],"control":[37,96,124,151],"group.":[38],"rate":[40],"derived":[45],"phenytoin/metabolite":[48],"ratio":[49,79,100,138,156],"serum":[51],"6":[52],"hours":[53],"after":[54],"an":[55],"oral":[56],"test":[57],"dose":[58],"300":[60],"mg":[61],"phenytoin.":[62],"propositus,":[64],"brother":[66],"and":[67,94,149],"sister,":[69],"were":[70],"very":[71],"slow":[72],"metabolizers":[73],"phenytoin,":[75],"metabolic":[78,99,137,155],"approximately":[81],"20.":[82],"In":[83],"other":[85],"individuals,":[86],"22":[87],"members":[89,116],"second":[92,119],"generation":[93,120],"37":[95],"subjects,":[97],"4.7":[102],"+/-":[103,106,141,144,159,162],"2.2":[104],"(mean":[105,143,161],"SD;":[107,145,163],"n":[108,146,164],"=":[109,147,165],"59)":[110],"found.":[112],"When":[113],"comparing":[114],"(F2)":[121],"group,":[125,152],"two":[126],"statistically":[127],"significantly":[128],"different":[129],"groups":[130],"appear":[131],"to":[132,183],"exist:":[133],"F2,":[134],"6.6":[140],"1.7":[142],"22),":[148],"3.7":[158],"1.8":[160],"37)":[166],"(p":[167],"less":[168],"than":[169],"0.001).":[170],"Based":[171],"on":[172],"these":[173],"results":[174],"defect":[181],"seems":[182],"be":[184],"autosomal":[185],"recessive.":[186]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
