STUDIES IN CLINICAL GENETICS

对各种罕见遗传疾病的患者进行了研究：1)和 非酮症高葡萄糖血症的罕见变异型，2)我们评估了 几名婴幼儿最初患有急性代谢性疾病 被诊断为雷耶综合征，但我们发现这是罕见的先天缺陷3) 大鼠肝移植远期疗效的研究 肝肾型酪氨酸血症4)最佳治疗方法的评价 甲基丙二酸血症患者的CBL-C亚型 挑战北大。

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.