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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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Podrobná bibliografie
Vydáno v:Ther Adv Neurol Disord
Hlavní autoři: Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2019
Témata:
On-line přístup: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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