HIGHLIGHTS
- What: The study demonstrates the clinical and genotypic heterogeneity of MMA patients and indicates that metabolic screening and genetic analysis are useful tools to identify rare cases. The authors focused on the clinical presentation, biochemical results, and genotype of critically ill children with onset.
- Who: Ling Su from the Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, PRChina have published the Article: Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study, in the Journal: (JOURNAL . . .
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