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Article

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2022

Wang Fei, Liang Lili, Ling Shiying, Yu Yue, Chen Ting, Xu Feng, Gong Zhuwen, Han Lianshu

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic characteristics of infants with cobalamin (cbl) X type of methylmalonic acidemia (MMA). METHODS: The clinical data of 5 infants with cblX type of MMA diagnosed in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine and Shanghai Children's Hospital from the year 2016 to 2020 were collected. The levels of blood acylcarnitines were...

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Identifiers

PMID: 36207831
DOI: 10.3724/zdxbyxb-2022-0194
PMCID: PMC9511482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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