Siyu Dai Yanting Yang Yaqian Li Hongqian Liu
10.1155/2022/5611697
Genet Res (Camb)
2022 Jul 22;2022:5611697.
CC BY
https://pubmed.ncbi.nlm.nih.gov/35919035/
Methylmalonyl-CoA Mutase / genetics Methylmalonyl-CoA Mutase / metabolism Tandem Mass Spectrometry
Methylmalonyl-CoA Mutase / genetics Methylmalonyl-CoA Mutase / metabolism Tandem Mass Spectrometry Case Reports Research Support, Non-U.S. Gov't Amino Acid Metabolism, Inborn Errors Child, Preschool China Female Humans Mutation Methylmalonyl-CoA Mutase Methylmalonic acidemia
PMC9337929
35919035
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient
2022