Article

Clinical and genetic analysis of 658 children with repeat hospitalization for methylmalonic aciduria from central China: a single-center retrospective study

2025-07-18

Abstract excerpt

<title>Abstract</title> <p>Background Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder caused by defects in the methylmalonyl-CoA mutase or its coenzyme, cobalamin metabolism. The disease presents with nonspecific and diverse clinical manifestations, which complicates early diagnosis. Methods We performed a retrospective analysis of 658 pediatric MMA patients treated at Henan Children...

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Literature Corpus work: 58bdefea-aa17-5e80-8610-37cea6540681
DOI: 10.21203/rs.3.rs-6769656/v1

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Clinical and genetic analysis of 658 children with repeat hospitalization for methylmalonic aciduria from central China: a single-center retrospective studyDOI 10.21203/rs.3.rs-6769656/v1Read

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