Article
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.
European journal of medical genetics - 1 Apr 2016
Ding Yuan, Li Xiyuan, Liu Yupeng, Hua Ying, Song Jinqing, Wang Liwen, Li Mengqiu, Qin Yaping, Yang Yanling
Abstract excerpt
BACKGROUND: Niemann-Pick disease type A (NPD-A) is a rare autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase deficiency. Only a few cases have been documented in mainland China, and prenatal diagnosis has not been performed to date. In this study, the clinical and laboratory features of four Chinese patients with early-onset NPD-A were summarized. METHODS: Four patients with NPD-A were...
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