Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical and molecular characteristics of patients with MMA harboring MMACHC and MUT mutations were summarized. Methods: During the study, 2...

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Detalles Bibliográficos
Autores principales: Zhou, Wei, Li, Huizhong, Wang, Chuanxia, Wang, Xiuli, Gu, Maosheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351470/
https://www.ncbi.nlm.nih.gov/pubmed/30728829
http://dx.doi.org/10.3389/fgene.2018.00726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351470/
https://www.ncbi.nlm.nih.gov/pubmed/30728829
http://dx.doi.org/10.3389/fgene.2018.00726

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