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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
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 |