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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Detalles Bibliográficos
Autores principales: Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710698/
https://www.ncbi.nlm.nih.gov/pubmed/31489032
http://dx.doi.org/10.1177/1756286419872115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710698/
https://www.ncbi.nlm.nih.gov/pubmed/31489032
http://dx.doi.org/10.1177/1756286419872115

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