Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

INTRODUCTION: Cobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC. This condition is characterized by combined methylmalonic acidemia and hyperhomocysteinemia, displaying a wide range of clinical manifestat...

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Detalles Bibliográficos
Autores principales: Chen, Qihua, Tang, Jianguang, Zhang, Hainan, Qin, Lixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556654/
https://www.ncbi.nlm.nih.gov/pubmed/37808496
http://dx.doi.org/10.3389/fneur.2023.1255128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556654/
https://www.ncbi.nlm.nih.gov/pubmed/37808496
http://dx.doi.org/10.3389/fneur.2023.1255128

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