{"id":"https://openalex.org/W995995427","doi":null,"title":"A Case of Ornithine Transcarbamylase(OTC) Deficiency","display_name":"A Case of Ornithine Transcarbamylase(OTC) Deficiency","publication_year":2000,"publication_date":"2000-01-15","ids":{"openalex":"https://openalex.org/W995995427","mag":"995995427"},"language":"en","primary_location":{"id":"mag:995995427","doi":null,"is_oa":true,"landing_page_url":"http://www.kjp.or.kr/upload/2000430116-20081239123339.PDF","pdf_url":null,"source":{"id":"https://openalex.org/S155422402","display_name":"Korean Journal of Pediatrics","issn_l":"1738-1061","issn":["1738-1061","2092-7258","2713-4148"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","kci-registered","ki-jl-1","oarl","poland-20","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319469","host_organization_name":"Korean Pediatric Society","host_organization_lineage":["https://openalex.org/P4310319469"],"host_organization_lineage_names":["Korean Pediatric Society"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Korean Journal of Pediatrics","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"http://www.kjp.or.kr/upload/2000430116-20081239123339.PDF","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082950586","display_name":"Soonhak Kwon","orcid":"https://orcid.org/0000-0002-0783-2243","observed_orcids":["https://orcid.org/0000-0002-0783-2243"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Soonhak Kwon","raw_affiliation_strings":["Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea"],"raw_orcid":"https://orcid.org/0000-0002-0783-2243","affiliations":[{"raw_affiliation_string":"Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070214927","display_name":"Yejhin Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Yejhin Lee","raw_affiliation_strings":["Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014113081","display_name":"Byung\u2010Ho Choe","orcid":"https://orcid.org/0000-0001-9899-9120","observed_orcids":["https://orcid.org/0000-0001-9899-9120"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Byung\u2010Ho Choe","raw_affiliation_strings":["Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea"],"raw_orcid":"https://orcid.org/0000-0001-9899-9120","affiliations":[{"raw_affiliation_string":"Departments of P ediatrics, Kyungpook National University School of M edicine, Taegu, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088349665","display_name":"Sang\u2010Kwon Lee","orcid":"https://orcid.org/0000-0002-3097-0345","observed_orcids":["https://orcid.org/0000-0002-3097-0345"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sang\u2010Kwon Lee","raw_affiliation_strings":["Departments of Radiology, Kyungpook National University School of M edicine, Taegu, Korea"],"raw_orcid":"https://orcid.org/0000-0002-3097-0345","affiliations":[{"raw_affiliation_string":"Departments of Radiology, Kyungpook National University School of M edicine, Taegu, Korea","institution_ids":["https://openalex.org/I31419693"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I31419693"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"43","issue":"1","first_page":"123","last_page":"127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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":0.9984999895095825,"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":0.0007999999797903001,"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/T12068","display_name":"Neonatal Health and Biochemistry","score":9.999999747378752e-05,"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/ornithine-transcarbamylase-deficiency","display_name":"ornithine transcarbamylase deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/urea-cycle-disorders","display_name":"urea cycle disorders","score":0.871999979019165},{"id":"https://openalex.org/keywords/x-linked-disorders","display_name":"X-linked disorders","score":0.6320000290870667},{"id":"https://openalex.org/keywords/hyperammonemia","display_name":"hyperammonemia","score":0.9039999842643738},{"id":"https://openalex.org/keywords/encephalopathy","display_name":"encephalopathy","score":0.9160000085830688},{"id":"https://openalex.org/keywords/liver-dysfunction","display_name":"liver dysfunction","score":0.8259999752044678},{"id":"https://openalex.org/keywords/hemodialysis","display_name":"hemodialysis","score":0.9440000057220459},{"id":"https://openalex.org/keywords/arginine-therapy","display_name":"arginine therapy","score":0.8769999742507935},{"id":"https://openalex.org/keywords/sodium-benzoate","display_name":"sodium benzoate","score":0.8709999918937683},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.593999981880188}],"concepts":[{"id":"https://openalex.org/C2908748535","wikidata":"https://www.wikidata.org/wiki/Q424409","display_name":"Carbamyl Phosphate","level":3,"score":0.8618561029434204},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8568292856216431},{"id":"https://openalex.org/C2778377652","wikidata":"https://www.wikidata.org/wiki/Q420678","display_name":"Ornithine transcarbamylase","level":5,"score":0.8310127854347229},{"id":"https://openalex.org/C2781099255","wikidata":"https://www.wikidata.org/wiki/Q1640868","display_name":"Hyperammonemia","level":2,"score":0.8231085538864136},{"id":"https://openalex.org/C77061444","wikidata":"https://www.wikidata.org/wiki/Q595994","display_name":"Urea cycle","level":4,"score":0.7731549739837646},{"id":"https://openalex.org/C2777302536","wikidata":"https://www.wikidata.org/wiki/Q826103","display_name":"Reye's syndrome","level":2,"score":0.661426305770874},{"id":"https://openalex.org/C2779129087","wikidata":"https://www.wikidata.org/wiki/Q408641","display_name":"Citrulline","level":4,"score":0.609721839427948},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5489363074302673},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.5265593528747559},{"id":"https://openalex.org/C2777448540","wikidata":"https://www.wikidata.org/wiki/Q422689","display_name":"Lactulose","level":2,"score":0.5119808912277222},{"id":"https://openalex.org/C2780469793","wikidata":"https://www.wikidata.org/wiki/Q3043161","display_name":"Ornithine transcarbamylase deficiency","level":5,"score":0.5094926953315735},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.4820164442062378},{"id":"https://openalex.org/C2776796294","wikidata":"https://www.wikidata.org/wiki/Q410198","display_name":"Ornithine","level":4,"score":0.46332448720932007},{"id":"https://openalex.org/C2777574038","wikidata":"https://www.wikidata.org/wiki/Q423971","display_name":"Sodium benzoate","level":2,"score":0.4617284834384918},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.44758692383766174},{"id":"https://openalex.org/C2909133680","wikidata":"https://www.wikidata.org/wiki/Q826103","display_name":"Reye Syndrome","level":2,"score":0.4143669307231903},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3840969204902649},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.3003530502319336},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2909175157546997},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14110884070396423},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.06638121604919434},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:995995427","doi":null,"is_oa":true,"landing_page_url":"http://www.kjp.or.kr/upload/2000430116-20081239123339.PDF","pdf_url":null,"source":{"id":"https://openalex.org/S155422402","display_name":"Korean Journal of Pediatrics","issn_l":"1738-1061","issn":["1738-1061","2092-7258","2713-4148"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","kci-registered","ki-jl-1","oarl","poland-20","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319469","host_organization_name":"Korean Pediatric Society","host_organization_lineage":["https://openalex.org/P4310319469"],"host_organization_lineage_names":["Korean Pediatric Society"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Korean Journal of Pediatrics","raw_type":null}],"best_oa_location":{"id":"mag:995995427","doi":null,"is_oa":true,"landing_page_url":"http://www.kjp.or.kr/upload/2000430116-20081239123339.PDF","pdf_url":null,"source":{"id":"https://openalex.org/S155422402","display_name":"Korean Journal of Pediatrics","issn_l":"1738-1061","issn":["1738-1061","2092-7258","2713-4148"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","kci-registered","ki-jl-1","oarl","poland-20","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319469","host_organization_name":"Korean Pediatric Society","host_organization_lineage":["https://openalex.org/P4310319469"],"host_organization_lineage_names":["Korean Pediatric Society"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Korean Journal of Pediatrics","raw_type":null},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9074000120162964,"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":10,"referenced_works":["https://openalex.org/W1543378549","https://openalex.org/W1967293761","https://openalex.org/W2007509578","https://openalex.org/W2049898047","https://openalex.org/W2051250144","https://openalex.org/W2057825690","https://openalex.org/W2062095480","https://openalex.org/W2253401957","https://openalex.org/W2314119136","https://openalex.org/W2341507698"],"related_works":["https://openalex.org/W3047770790","https://openalex.org/W2048630708","https://openalex.org/W4301958647","https://openalex.org/W2093234382","https://openalex.org/W2053023282","https://openalex.org/W2007108945","https://openalex.org/W2067031736","https://openalex.org/W2086674619","https://openalex.org/W3208036090","https://openalex.org/W2328867195"],"abstract_inverted_index":{"OTC":[0,14],"deficiency":[1],"is":[2,12],"an":[3,74],"X-linked":[4],"disorder":[5],"in":[6,76],"which":[7],"the":[8,17],"synthesis":[9,18],"of":[10,19,31,82],"urea":[11],"impaired.":[13],"cata-":[15],"lyzes":[16],"citrulline":[20],"from":[21],"carbamyl":[22],"phosphate":[23],"and":[24,60],"ornithine.":[25],"Complete":[26],"or":[27],"partial":[28],"defi-":[29],"ciencies":[30],"this":[32,78],"enzyme":[33],"may":[34],"lead":[35],"to":[36],"Reye":[37,58],"syndrome":[38],"like":[39],"picture":[40],"such":[41],"as":[42,56],"encephalopathy,":[43],"hepatic":[44],"dysfunction,":[45],"hyperammonemia,":[46],"etc.":[47,69],"We":[48],"recently":[49],"had":[50],"a":[51],"case":[52],"that":[53],"was":[54,61],"presented":[55],"recurrent":[57],"syndrome,":[59],"effectively":[62],"treated":[63],"with":[64,80],"hemodialysis,":[65],"arginine,":[66],"sodium":[67],"benzoate,":[68],"This":[70],"re-":[71],"port":[72],"describes":[73],"experience":[75],"treating":[77],"condition":[79],"review":[81],"available":[83],"literature.":[84],"(J":[85],"Korean":[86],"Pediatr":[87],"Soc":[88],"2000;43:123-127)":[89]},"counts_by_year":[],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}