Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Ling SuHuiying ShengXiuzhen LiYanna CaiHuifen MeiJing ChengDuan LiZhikun LuYunting LinXiaodan ChenMinzhi PengYonglan HuangWen ZhangLi Liu

Published in: Orphanet journal of rare diseases (2024)

Our 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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
patient reported outcomes
single cell