{"title":"[全新羧化酶合成酶缺乏]。","authors":"Y. Suzuki","doi":"10.32388/xwee64","DOIUrl":null,"url":null,"abstract":"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"9 1","pages":"816-7"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"[Holocarboxylase synthetase deficiency].\",\"authors\":\"Y. Suzuki\",\"doi\":\"10.32388/xwee64\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.\",\"PeriodicalId\":79374,\"journal\":{\"name\":\"Ryoikibetsu shokogun shirizu\",\"volume\":\"9 1\",\"pages\":\"816-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ryoikibetsu shokogun shirizu\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32388/xwee64\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ryoikibetsu shokogun shirizu","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/xwee64","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
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