Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.

doi:10.1038/s41390-024-03581-x

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Article

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.

Pediatric research - 1 May 2025

Hao Lili, Ling Shiying, Ding Si, Qiu Wenjuan, Zhang Huiwen, Zhang Kaichuang, Chen Ting, Gu Xuefan, Liang Lili, Han Lianshu

Abstract excerpt

BACKGROUND: Methylmalonic acidemia (MMA) is the most common organic acidemia in China, with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present study aimed to investigate the prognostic manifestations and their possible influence in patients with these two subtypes. METHODS: A national multicenter retrospective study of patients with cblC-MMA and mut-MMA between 2004 and 2022 was...

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