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Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases

The cblC defect is the most common inborn error of cobalamin (Cbl) metabolism. Clinical severity and presentation of the cblC defect ranges from death to mild disability. Only 71 cases of late-onset cblC defect have been described in the literature. We provide the 41-year follow up of two siblings w...

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Detalhes bibliográficos
Publicado no:Ther Adv Neurol Disord
Main Authors: Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6710698/
https://ncbi.nlm.nih.gov/pubmed/31489032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1756286419872115
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