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

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

IntroductionCobalamin 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 manifestatio...

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Bibliographic Details
Main Authors: Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Neurology
Subjects:
desquamating dermatitis
cerebellum
genes
cobalamin C deficiency
skin lesions
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1255128/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1255128/full

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