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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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Bibliographische Detailangaben
Veröffentlicht in:Ther Adv Neurol Disord
Hauptverfasser: Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf
Format: Artigo
Sprache:Inglês
Veröffentlicht: SAGE Publications 2019
Schlagworte:
Online Zugang: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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