{"doi":"10.1007/bf01801772","title":"Immunochemical study of ornithine transcarbamylase deficiency","abstract":"<jats:title>Abstract</jats:title><jats:p>Deficiency of ornithine transcarbamylase (OTC, EC 2.1.3.3) (McKusick 31125), a mitochondrial enzyme of the urea cycle, appears to be one of the most frequent causes of inherited ammonia intoxication, and evidence indicates that the enzyme is X‐linked. Recently, different kinds of mutation have been reported (Cathelineau<jats:italic>et al.</jats:italic>, 1972; Briand<jats:italic>et al.</jats:italic>, 1982). We carried out detailed studies on the molecular properties of the enzyme from two heterozygous females, using an antibody to bovine OTC which cross‐reacted with the human enzyme.</jats:p>","journal":"Journal of Inherited Metabolic Disease","year":1984,"id":41865,"datarank":0.7908008091183598,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.4311165181986041,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.4311165181986041,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":8,"citers_with_citation_signal":6,"citers_with_endowment":6,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":201115,"name":"H. Nagayama","orcid":null,"position":1,"is_corresponding":false},{"id":201116,"name":"H. Shimoizumi","orcid":null,"position":2,"is_corresponding":false},{"id":201117,"name":"I. Okabe","orcid":null,"position":3,"is_corresponding":false},{"id":201118,"name":"S. Kamoshita","orcid":null,"position":4,"is_corresponding":false},{"id":201114,"name":"H. Kodama","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"6438397","pmcid":null,"openalex_id":"https://openalex.org/W2067136723","authors":[],"funders":[],"total_grants":0,"fwci":1.5893,"citation_percentile":0.81977472,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01801772","host_type":"publisher"},{"url":"https://doi.org/10.1007/bf01801772","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/6438397","host_type":"repository"}],"fields_of_study":["Metabolism and Genetic Disorders","Neonatal Health and Biochemistry","Hemoglobin structure and function","Biology","Medicine","Ammonia","Child","Child, Preschool","Cross Reactions","Female","Humans","Immunodiffusion","Liver","Ornithine Carbamoyltransferase","Ornithine Carbamoyltransferase Deficiency Disease","Reference Values"],"mesh_terms":["Ammonia","Child","Child, Preschool","Cross Reactions","Female","Immunodiffusion","Humans","Liver","Ornithine Carbamoyltransferase","Reference Values","Ornithine Carbamoyltransferase Deficiency Disease"],"keywords":["Ornithine transcarbamylase","Urea cycle","Ornithine Carbamoyltransferase","Ornithine transcarbamylase deficiency","Enzyme","Enzyme deficiency","Ornithine","Biochemistry","Mutation","Urea","Chemistry","Endocrinology","Biology","Amino acid","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-13T11:20:58.777282Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}