腺嘌呤磷酸核糖转移酶完全缺乏症：一个新家族的报告。
Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
作者信息
Nakamoto T, Nakatsu H, Kishi T, Sakura N, Usui T, Nihira H
出版信息
J Urol. 1983 Sep;130(3):580-2. doi: 10.1016/s0022-5347(17)51318-x.
PMID:6887386
Abstract
We report a case of 2,8-dihydroxyadenine urinary lithiasis with complete deficiency of adenine phosphoribosyl transferase. Adenine phosphoribosyl transferase activities in the erythrocytes, lymphocytes and granulocytes of the patient's family also were determined. The propositus and her younger brother were homozygotes for adenine phosphoribosyl transferase deficiency and her parents were heterozygotes. This is the third family with this disease to be reported.
摘要
我们报告一例伴有腺嘌呤磷酸核糖转移酶完全缺乏的2,8 - 二羟基腺嘌呤尿石症病例。同时还测定了该患者家庭成员红细胞、淋巴细胞和粒细胞中的腺嘌呤磷酸核糖转移酶活性。先证者及其弟弟为腺嘌呤磷酸核糖转移酶缺乏的纯合子，其父母为杂合子。这是第三例报道的患此病的家族。
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