Article
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2018
Liu Y, Liu Y P, Zhang Y, Song J Q, Zheng H, Dong H, Ma Y Y, Wu T F, Wang Q, Li X Y, Ding Y, Li D X, Jin Y, Li M Q, Wang Z X, Yuan Y, Li H X, Qin J, Yang Y L
Abstract excerpt
Objective: To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated. Methods: Tottally 1 003 patients of methylmalonic acidemia from 26 provinces and municipalities of the mainland of China were enrolled. The clinical data, biochemical features and gene...
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