Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia

Methylmalonic acidemia (MMA)-affected patients may have developmental, hematological, neurological, metabolic, ophthalmological, and dermatological clinically abnormal findings. This study aimed to identify mutations in 13 Chinese MMA cases. We provided genetic counseling, treatment, and prenatal di...

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Detalles Bibliográficos
Autores principales: Zhang, Chuan, Wang, Xing, Hao, Shengju, Zhang, Qinghua, Zheng, Lei, Zhou, Bingbo, Liu, Furong, Feng, Xuan, Chen, Xue, Ma, Panpan, Chen, Cuixia, Cao, Zongfu, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385101/
https://www.ncbi.nlm.nih.gov/pubmed/32719376
http://dx.doi.org/10.1038/s41598-020-69565-z

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