Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms. No cases with CMAMMA were reported in China. Mater...

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Detalles Bibliográficos
Autores principales: Wang, Ping, Shu, Jianbo, Gu, Chunyu, Yu, Xiaoli, Zheng, Jie, Zhang, Chunhua, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658908/
https://www.ncbi.nlm.nih.gov/pubmed/34900860
http://dx.doi.org/10.3389/fped.2021.751895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658908/
https://www.ncbi.nlm.nih.gov/pubmed/34900860
http://dx.doi.org/10.3389/fped.2021.751895

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