Multiomic Analysis in Fibroblasts of Patients with Inborn Errors of Cobalamin Metabolism Reveals Concordance with Clinical and Metabolic Variability
EBIOMEDICINE（2024）
关键词
Inborn errors of metabolism,Methylmalonyl-CoA mutase,Methionine synthase,MMACHC,Vitamin B12 deficiency,One-carbon metabolism
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