一名贝都因母亲苯丙酮尿症的晚期诊断
Late diagnosis of phenylketonuria in a Bedouin mother.
作者信息
Usha R, Uma R, Farag T I, Girish Y, al-Ghanim M M, al-Najdi K, al-Awadi S A, el-Badramany M H
机构信息
Paediatric Department, Al-Jahra Hospital, Kuwait.
出版信息
Am J Med Genet. 1992 Dec 1;44(6):713-5. doi: 10.1002/ajmg.1320440603.
PMID:1481837
Abstract
We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.
摘要
我们报告了第一例患有苯丙酮尿症胚胎病的贝都因女性病例，该女性育有3个孩子。在此，我们简要讨论母亲苯丙酮尿症延迟诊断的危害。
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