Article
[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2020
Kang L L, Liu Y P, Shen M, Chen Z H, Song J Q, He R X, Liu Y, Zhang Y, Dong H, Li M Q, Jin Y, Zheng H, Wang Q, Ding Y, Li X Y, Li D X, Li H X, Liu X Q, Xiao H J, Jiang Y W, Xiong H, Zhang C Y, Wang Z X, Yuan Y, Liang D S, Tian Y P, Yang Y L
Abstract excerpt
Objectives: To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention. Methods: Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020....
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