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[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Deng Y X, Hao L L, Ding S, Ding Y, Qiu W J, Zhang H W, Liang L L, Zhang K C, Yang Y, Wang R F, Gu X F, Han L S

Abstract excerpt

Objective: To analyze regional differences in MMACHC gene variations among patients with cblC-type methylmalonic acidemia (MMA) in China and to explore the relationship between these variations and neonatal screening, biochemical markers and prognosis. Methods: Retrospective case summary. Clinical and laboratory data, including general condition, biochemical markers and genetic analysis, were collected from 1 859...

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PMID: 39429080
DOI: 10.3760/cma.j.cn112140-20240408-00250

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