{"title":"杂合子携带者OTC缺乏的变异性：一个家族的病例报告","authors":"C. Staufner, K. Zangerl, G. Hoffmann, S. Kölker","doi":"10.1055/s-0036-1586455","DOIUrl":null,"url":null,"abstract":"Abstract We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"005 - 010"},"PeriodicalIF":0.0000,"publicationDate":"2014-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586455","citationCount":"0","resultStr":"{\"title\":\"Variability of OTC deficiency in heterozygous carriers: Case report of a family\",\"authors\":\"C. Staufner, K. Zangerl, G. Hoffmann, S. Kölker\",\"doi\":\"10.1055/s-0036-1586455\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.\",\"PeriodicalId\":89425,\"journal\":{\"name\":\"Journal of pediatric biochemistry\",\"volume\":\"04 1\",\"pages\":\"005 - 010\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1055/s-0036-1586455\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric biochemistry\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0036-1586455\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric biochemistry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0036-1586455","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Variability of OTC deficiency in heterozygous carriers: Case report of a family
Abstract We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.
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