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Article

[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2024

Zhang Li-Ming, Wu Sheng-Nan, Guo Ya-Nan, Yang Jian-Wei, Sun Hong-Qi, Yang Jun-Mei, Chen Yong-Xing

Abstract excerpt

OBJECTIVES: To investigate the clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of six children with MCCD who attended Children's Hospital Affiliated to Zhengzhou University from January 2018 to October 2023. RESULTS: Among the six children with MCCD,...

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PMID: 39148390
DOI: 10.7499/j.issn.1008-8830.2404026
PMCID: PMC11334540

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