The First Case of Homocystinuria Picked Up by Newborn Screening in Hong Kong: A Case Report

被引：0
|
作者：
Ho, S. [1 ]
Hui, J. [2 ]
机构：
[1] Dept Hlth, Clin Genet Serv, Hong Kong, Peoples R China
[2] Hong Kong Childrens Hosp, Metab Med, Kowloon Bay, Kowloon, 1 Shing Cheong Rd, Hong Kong, Peoples R China
来源：
HONG KONG JOURNAL OF PAEDIATRICS | 2020年 / 25卷 / 01期
关键词：
Cystathionine beta-synthase deficiency; Homocystinuria; Newborn screening; Pyridoxine unresponsive;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Classical homocystinuria is a rare metabolic disease among the local Chinese population. We report a case of pyridoxine non-responsive classical homocystinuria who was picked up by the Hong Kong government's territory wide newborn screening programme which was started in 2015.
引用
收藏
页码：42 / 44
页数：3
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