STUDIES IN CLINICAL GENETICS

临床遗传学研究

• 批准号: 3883689
• 负责人: DAVID L VALLE
• 金额: --
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3883689
• 关键词: familial hyperlipoproteinemia; human subject; hyperglycinemia; inborn metabolism disorder; inborn metabolism disorder diagnosis; isovaleric acidemia; liver transplantation; medical complication; methylmalonic aciduria; pediatrics; phenylketonurias; sign /symptom; tyrosinemias

A wide variety of patients with rare genetic disorders are studied: 1)an unusual variant form of nonketotic hyperlucinemia, 2) we have evaluated several infants and young children with acute metabolic disease initially diagnosed as Reye syndrome but shown by us to be rare inborn errors 3) long-term study of the efficacy of hepatic transplantation in the hepatorenal form of tyrosinemia 4) evaluation of optimal therapy for the Cbl-C subgroup of patients with methylmalonic acidemia 4) phenylalamine challenge PKU.

研究了各种各样的罕见遗传性疾病患者：1） 不寻常的变异形式的非酮症高光泽症，2）我们已经评估 几个患有急性代谢性疾病的婴儿和幼儿， 被诊断为Reye综合征，但我们显示这是一种罕见的先天性缺陷3） 肝移植治疗肝硬化的远期疗效观察 肝肾型酪氨酸血症4）最佳治疗的评价 甲基丙二酸血症患者的Cbl-C亚组4）苯丙氨酸 挑战PKU。