Associated Papers
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
Liang L et al.
Journal of Medical Genetics, 2023
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
Dai S et al.
Genetics Research, 2022
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L et al.
Orphanet Journal of Rare Diseases, 2021
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].
Hu S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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