一种导致2,8 - 二羟基腺嘌呤（嘌呤体）结石形成的罕见酶缺乏症。
A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi.
作者信息
Szönyi P, Berényi M, Tóth J
出版信息
Int Urol Nephrol. 1985;17(3):231-3. doi: 10.1007/BF02085409.
PMID:4086237
Abstract
Deficiency in the enzyme adenine-phosphoribosyltransferase (APRT) has given rise to the formation of 2,8-dihydroxyadenine calculi, which are extremely rare. It is the first case of this kind reported in Hungary.
摘要
腺嘌呤磷酸核糖转移酶（APRT）缺乏导致了极为罕见的2,8 - 二羟基腺嘌呤结石的形成。这是匈牙利报道的首例此类病例。
Zotero 插件