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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...
Autores principales: | Motte, Jeremias, Kneiphof, Janina, Straßburger-Krogias, Katrin, Pitarokoili, Kalliopi, Fisse, Anna Lena, Kappos, Ludwig, Gold, Ralf |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
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 |
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