Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases with late-onset MMA have been rarely reported....

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Detalles Bibliográficos
Autores principales: Wang, Shengnan, Wang, Xu, Xi, Jianxin, Yang, Wenzhuo, Zhu, Mingqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294225/
https://www.ncbi.nlm.nih.gov/pubmed/35865640
http://dx.doi.org/10.3389/fneur.2022.935604

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294225/
https://www.ncbi.nlm.nih.gov/pubmed/35865640
http://dx.doi.org/10.3389/fneur.2022.935604

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