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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| Glavni autori: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2023-09-01
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| Serija: | Frontiers in Neurology |
| Teme: | |
| Online pristup: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1255128/full |
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