Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

BACKGROUND: Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine. The latter is considered to be a risk factor for multiple sclerosis (MS). We repor...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab Rep
Auteurs principaux: Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo
Format: Artigo
Langue:Inglês
Publié: Elsevier 2020
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7026611/
https://ncbi.nlm.nih.gov/pubmed/32099815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100560
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