Cargando…
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
BACKGROUND: Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type,...
Autores principales: | Liang, Lili, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Ye, Jun, Zhang, Huiwen, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Yu, Yongguo, Gu, Xuefan, Han, Lianshu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792044/ https://www.ncbi.nlm.nih.gov/pubmed/33413471 http://dx.doi.org/10.1186/s13023-020-01632-0 |
Ejemplares similares
-
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
por: Yu, Yue, et al.
Publicado: (2021) -
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
por: Ling, Shiying, et al.
Publicado: (2022) -
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient
por: Dai, Siyu, et al.
Publicado: (2022) -
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
por: Chen, Ting, et al.
Publicado: (2021) -
Methylmalonic acidemia: Neurodevelopment and neuroimaging
por: Chen, Tao, et al.
Publicado: (2023)