{"id":"https://openalex.org/W2407388779","doi":null,"title":"Study of enzyme defect in a case of ornithine transcarbamylase deficiency.","display_name":"Study of enzyme defect in a case of ornithine transcarbamylase deficiency.","publication_year":1978,"publication_date":"1978-12-01","ids":{"openalex":"https://openalex.org/W2407388779","mag":"2407388779","pmid":"https://pubmed.ncbi.nlm.nih.gov/729890"},"language":"en","primary_location":{"id":"pmid:729890","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/729890","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":"Diabete & metabolisme","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5061156986","display_name":"I A Qureshi","orcid":"https://orcid.org/0000-0001-7720-7067","observed_orcids":["https://orcid.org/0000-0001-7720-7067"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I A Qureshi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110184735","display_name":"Jacques Letarte","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Letarte","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5018745535","display_name":"R. Quellet","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Quellet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3647,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.63533835,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"4","issue":"4","first_page":"239","last_page":"41"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9976000189781189,"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":0.9976000189781189,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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/T12827","display_name":"Biochemical and Molecular Research","score":0.0005000000237487257,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ornithine-transcarbamylase-deficiency","display_name":"ornithine transcarbamylase deficiency","score":0.9980000257492065},{"id":"https://openalex.org/keywords/enzyme-deficiency","display_name":"enzyme deficiency","score":0.5270000100135803},{"id":"https://openalex.org/keywords/orotic-aciduria","display_name":"orotic aciduria","score":0.996999979019165},{"id":"https://openalex.org/keywords/liver-biopsy","display_name":"liver biopsy","score":0.8539999723434448},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.7699999809265137},{"id":"https://openalex.org/keywords/optimal-ph","display_name":"pH optimum","score":0.9350000023841858},{"id":"https://openalex.org/keywords/michaelis-constant","display_name":"Michaelis constant","score":0.9129999876022339},{"id":"https://openalex.org/keywords/carbamoyl-phosphate","display_name":"carbamoyl phosphate","score":0.8399999737739563},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.9100000262260437},{"id":"https://openalex.org/keywords/urea-cycle-disorders","display_name":"urea cycle disorders","score":0.8199999928474426}],"concepts":[{"id":"https://openalex.org/C2778377652","wikidata":"https://www.wikidata.org/wiki/Q420678","display_name":"Ornithine transcarbamylase","level":5,"score":0.9656994342803955},{"id":"https://openalex.org/C2780469793","wikidata":"https://www.wikidata.org/wiki/Q3043161","display_name":"Ornithine transcarbamylase deficiency","level":5,"score":0.9192656874656677},{"id":"https://openalex.org/C2908748535","wikidata":"https://www.wikidata.org/wiki/Q424409","display_name":"Carbamyl Phosphate","level":3,"score":0.9092510938644409},{"id":"https://openalex.org/C2909874926","wikidata":"https://www.wikidata.org/wiki/Q420678","display_name":"Ornithine Carbamoyltransferase","level":5,"score":0.7955330610275269},{"id":"https://openalex.org/C2781099255","wikidata":"https://www.wikidata.org/wiki/Q1640868","display_name":"Hyperammonemia","level":2,"score":0.6524940133094788},{"id":"https://openalex.org/C77061444","wikidata":"https://www.wikidata.org/wiki/Q595994","display_name":"Urea cycle","level":4,"score":0.6036619544029236},{"id":"https://openalex.org/C2775851010","wikidata":"https://www.wikidata.org/wiki/Q425536","display_name":"Orotic acid","level":2,"score":0.599382758140564},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5651487112045288},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5475385189056396},{"id":"https://openalex.org/C2776796294","wikidata":"https://www.wikidata.org/wiki/Q410198","display_name":"Ornithine","level":4,"score":0.5060059428215027},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.4935075044631958},{"id":"https://openalex.org/C2777766500","wikidata":"https://www.wikidata.org/wiki/Q360841","display_name":"Liver biopsy","level":3,"score":0.48669296503067017},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.47504472732543945},{"id":"https://openalex.org/C28212737","wikidata":"https://www.wikidata.org/wiki/Q5381543","display_name":"Enzyme assay","level":3,"score":0.4102631211280823},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3837825059890747},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35997673869132996},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3110733926296234},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.28504419326782227},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.05454865097999573},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.05182799696922302},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000641","descriptor_name":"Ammonia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D009954","descriptor_name":"Ornithine Carbamoyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009963","descriptor_name":"Orotic Acid","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D020163","descriptor_name":"Ornithine Carbamoyltransferase Deficiency Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:729890","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/729890","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":"Diabete & metabolisme","raw_type":"Journal Article"},{"id":"mag:2407388779","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/729890","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"display_name":"Good health and well-being","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":0,"referenced_works":[],"related_works":["https://openalex.org/W1974245917","https://openalex.org/W2088776498","https://openalex.org/W1578869019","https://openalex.org/W148796307","https://openalex.org/W4320073034","https://openalex.org/W153596383","https://openalex.org/W2012310212","https://openalex.org/W2083224972","https://openalex.org/W1635490998","https://openalex.org/W2132449653"],"abstract_inverted_index":{"Activity":[0],"of":[1,26,33,35,60,89],"liver":[2,97],"ornithine":[3,63,90],"transcarbamylase":[4,64,91],"was":[5,30,40,65,77],"measured":[6],"in":[7,42],"a":[8,12,36,86],"biopsy":[9],"obtained":[10],"from":[11,18],"seven":[13],"years":[14],"old":[15],"girl,":[16],"suffering":[17],"chronic":[19],"hyperammonemia":[20],"and":[21,45,56],"orotic":[22],"aciduria.":[23],"The":[24,81],"activity":[25],"the":[27,43,46,49,61,67,73],"defective":[28],"enzyme":[29],"only":[31],"17%":[32],"that":[34],"control.":[37,47],"pH":[38,50],"optimum":[39],"8.1":[41],"patient":[44],"However,":[48],"curves":[51],"were":[52],"different":[53],"between":[54],"7.0":[55],"8.1.":[57],"Km":[58,74],"(ornithine)":[59],"patient's":[62],"within":[66],"normal":[68],"range":[69],"(0.41":[70],"nM),":[71],"but":[72],"(carbamyl":[75],"phosphate)":[76],"low":[78],"(0.18":[79],"mM).":[80],"girl":[82],"seems":[83],"to":[84,94],"be":[85],"heterozygote":[87],"carrier":[88],"deficiency":[92],"due":[93],"an":[95],"abnormal":[96],"enzyme.":[98]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}