Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
Liang L, Ling S, Yu Y, Shuai R, Qiu W, Zhang H, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Gong Z, Chen T, Zhan X, Gu X, Han L.
Liang L, et al.
J Med Genet. 2023 Dec 21;61(1):8-17. doi: 10.1136/jmg-2022-108682.
J Med Genet. 2023.
PMID: 37316190
RESULTS: There were 152 patients diagnosed by tandem mass spectrometry (MS/MS) expanded NBS, 209 patients diagnosed because of disease onset without NBS and 4 cases diagnosed because of sibling diagnosis. The median age of onset was 15 days old, with a variety of symptoms …
RESULTS: There were 152 patients diagnosed by tandem mass spectrometry (MS/MS) expanded NBS, 209 patients diagnosed because of disease onset …