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Article

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Aug 2021

Yu Yue, Ling Shiying, Shuai Ruixue, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Ji Wenjun, Liu Yuchao, Gu Xuefan, Han Lianshu

Abstract excerpt

To explore the clinical features and long-term outcomes of patients with cblC type methylmalonic acidemia (MMA) carrying c.609G>A (p.W203X) mutation of gene. The clinical and laboratory findings of 720 patients with MMA carrying the c.609G>A mutation were retrospectively analyzed. There were 172 cases carrying homozygous mutations of c.609G>A (group A), 169 cases carrying compound heterozygous mutations of...

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Identifiers

PMID: 34704411
DOI: 10.3724/zdxbyxb-2021-0276
PMCID: PMC8771641

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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