article_metadata: Siyu Dai Yanting Yang Yaqian Li Hongqian Liu
article_metadata: 10.1155/2022/5611697
article_metadata: Genet Res (Camb)
article_metadata: 2022 Jul 22;2022:5611697.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35919035/
article_metadata: Methylmalonyl-CoA Mutase / genetics Methylmalonyl-CoA Mutase / metabolism Tandem Mass Spectrometry
article_metadata: 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
article_metadata: PMC9337929
article_metadata: 35919035
article_metadata: Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient
article_metadata: 2022