{"id":"https://openalex.org/W2025926164","doi":"https://doi.org/10.1016/s0140-6736(76)91143-0","title":"THE PRIMARY ENZYME DEFECT IN HEREDITARY COPROPORPHYRIA","display_name":"THE PRIMARY ENZYME DEFECT IN HEREDITARY COPROPORPHYRIA","publication_year":1976,"publication_date":"1976-12-01","ids":{"openalex":"https://openalex.org/W2025926164","doi":"https://doi.org/10.1016/s0140-6736(76)91143-0","mag":"2025926164","pmid":"https://pubmed.ncbi.nlm.nih.gov/63041"},"language":"en","primary_location":{"id":"doi:10.1016/s0140-6736(76)91143-0","doi":"https://doi.org/10.1016/s0140-6736(76)91143-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0140-6736(76)91143-0","pdf_url":null,"source":{"id":"https://openalex.org/S49861241","display_name":"The Lancet","issn_l":"0099-5355","issn":["0099-5355","0140-6736","1474-547X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Lancet","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/A5066619588","display_name":"George H. Elder","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G.H Elder","raw_affiliation_strings":["Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"J.O Evans","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J.O Evans","raw_affiliation_strings":["Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"N Thomas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Thomas","raw_affiliation_strings":["Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medical Biochemistry and Medicine, Welsh National School of Medicine, Cardiff, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088570300","display_name":"Roger Cox","orcid":"https://orcid.org/0000-0001-7170-5014","observed_orcids":["https://orcid.org/0000-0001-7170-5014"]},"institutions":[{"id":"https://openalex.org/I90344618","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517","country_code":"GB","type":"government","lineage":["https://openalex.org/I4210087105","https://openalex.org/I90344618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R Cox","raw_affiliation_strings":["Medical Research Council Radiobiology Unit, Harwell, Oxfordshire, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Council Radiobiology Unit, Harwell, Oxfordshire, United Kingdom","institution_ids":["https://openalex.org/I90344618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025489238","display_name":"Martin J. Brodie","orcid":"https://orcid.org/0000-0003-1781-2892","observed_orcids":["https://orcid.org/0000-0003-1781-2892"]},"institutions":[{"id":"https://openalex.org/I2802797558","display_name":"Stobhill Hospital","ror":"https://ror.org/04pc31859","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800201399","https://openalex.org/I2802797558"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M.J Brodie","raw_affiliation_strings":["Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom","institution_ids":["https://openalex.org/I2802797558"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101882464","display_name":"Michael R. Moore","orcid":"https://orcid.org/0000-0003-2381-1853","observed_orcids":["https://orcid.org/0000-0003-2381-1853","https://orcid.org/0000-0001-7769-4694"]},"institutions":[{"id":"https://openalex.org/I2802797558","display_name":"Stobhill Hospital","ror":"https://ror.org/04pc31859","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800201399","https://openalex.org/I2802797558"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M.R Moore","raw_affiliation_strings":["Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom","institution_ids":["https://openalex.org/I2802797558"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111929059","display_name":"A. Goldberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802797558","display_name":"Stobhill Hospital","ror":"https://ror.org/04pc31859","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800201399","https://openalex.org/I2802797558"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A Goldberg","raw_affiliation_strings":["Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Materia Medica, Stobhill General Hospital, Glasgow, United Kingdom","institution_ids":["https://openalex.org/I2802797558"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085990729","display_name":"D. C. Nicholson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I4210153400","display_name":"King's College Hospital","ror":"https://ror.org/044nptt90","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210111135","https://openalex.org/I4210153400"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D.C Nicholson","raw_affiliation_strings":["Department of Chemical Pathology, King's College Hospital Medical School, London SE5, United Kingdon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemical Pathology, King's College Hospital Medical School, London SE5, United Kingdon","institution_ids":["https://openalex.org/I183935753","https://openalex.org/I4210153400"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":7890,"currency":"USD","value_usd":7890},"apc_paid":null,"fwci":4.482,"has_fulltext":false,"cited_by_count":89,"citation_normalized_percentile":{"value":0.95632928,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"308","issue":"7997","first_page":"1217","last_page":"1219"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12441","display_name":"Porphyrin Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12441","display_name":"Porphyrin Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"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/T12068","display_name":"Neonatal Health and Biochemistry","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/hereditary-coproporphyria","display_name":"hereditary coproporphyria","score":1.0},{"id":"https://openalex.org/keywords/coproporphyrinogen-oxidase","display_name":"coproporphyrinogen oxidase","score":0.9860000014305115},{"id":"https://openalex.org/keywords/enzyme-deficiency","display_name":"enzyme deficiency","score":0.6990000009536743},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.8619999885559082},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9369999766349792},{"id":"https://openalex.org/keywords/heme-biosynthesis","display_name":"heme biosynthesis","score":0.8730000257492065},{"id":"https://openalex.org/keywords/uroporphyrinogen-i-synthase","display_name":"uroporphyrinogen I synthase","score":0.9509999752044678},{"id":"https://openalex.org/keywords/rate-limiting-enzyme","display_name":"rate-limiting enzyme","score":0.8360000252723694},{"id":"https://openalex.org/keywords/acute-porphyria-attacks","display_name":"acute porphyria attacks","score":0.8690000176429749},{"id":"https://openalex.org/keywords/liver","display_name":"liver","score":0.8820000290870667}],"concepts":[{"id":"https://openalex.org/C2777977315","wikidata":"https://www.wikidata.org/wiki/Q7243056","display_name":"Primary (astronomy)","level":2,"score":0.5662654042243958},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43809041380882263},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.08448359370231628},{"id":"https://openalex.org/C1276947","wikidata":"https://www.wikidata.org/wiki/Q333","display_name":"Astronomy","level":1,"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":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003305","descriptor_name":"Coproporphyrinogens","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D003306","descriptor_name":"Coproporphyrins","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D005243","descriptor_name":"Feces","qualifier_ui":"Q000032","qualifier_name":"analysis","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":"D006418","descriptor_name":"Heme","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010088","descriptor_name":"Oxidoreductases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D011163","descriptor_name":"Hydroxymethylbilane Synthase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011164","descriptor_name":"Porphyrias","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D011164","descriptor_name":"Porphyrias","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011164","descriptor_name":"Porphyrias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017094","descriptor_name":"Porphyrias, Hepatic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0140-6736(76)91143-0","doi":"https://doi.org/10.1016/s0140-6736(76)91143-0","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0140-6736(76)91143-0","pdf_url":null,"source":{"id":"https://openalex.org/S49861241","display_name":"The Lancet","issn_l":"0099-5355","issn":["0099-5355","0140-6736","1474-547X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Lancet","raw_type":"journal-article"},{"id":"pmid:63041","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/63041","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":"Lancet (London, England)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1775749144","https://openalex.org/W1878915947","https://openalex.org/W1989722473","https://openalex.org/W2025357677","https://openalex.org/W2058682343","https://openalex.org/W2072028568","https://openalex.org/W2076214092","https://openalex.org/W2115301124","https://openalex.org/W2117480282","https://openalex.org/W2165604882","https://openalex.org/W2166660261","https://openalex.org/W2333654055","https://openalex.org/W2405236440","https://openalex.org/W2413841028","https://openalex.org/W2414781255","https://openalex.org/W2418431499","https://openalex.org/W2743755770","https://openalex.org/W3145894777","https://openalex.org/W4254309333","https://openalex.org/W4300774070"],"related_works":["https://openalex.org/W4256485235","https://openalex.org/W60386708","https://openalex.org/W2397820419","https://openalex.org/W2047543101","https://openalex.org/W1970160023","https://openalex.org/W2027173801","https://openalex.org/W1968598722","https://openalex.org/W2135459579","https://openalex.org/W3034667897","https://openalex.org/W184024166"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}