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A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

Kang, LL; Liu, YP; Shen, M; Liu, Y; He, RX; Song, JQ; Jin, Y; Li, MQ; Zhang, Y; Dong, H; Liu, XQ; Yan, H; Qin, J; Zheng, H; Chen, YX; Li, DX; Wei, HY; Zhang, HF; Sun, LY; Zhu, ZJ; Liang, DS; Yang, YL

Yang, YL (corresponding author), Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China.

JOURNAL OF INHERITED METABOLIC DISEASE, 2020; 43 (3): 409

Abstract

Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study aimed to characterise the genotypic and phenotypic variabilities......

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