Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-y...
Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases
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London, England: SAGE Publications
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Language
English
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Publisher
London, England: SAGE Publications
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Contents
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 with a late-onset cblC defect, first described afte...
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Full title
Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases
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TN_cdi_doaj_primary_oai_doaj_org_article_ee418f1e588047849756af00aaf87fb2
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ee418f1e588047849756af00aaf87fb2
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ISSN
1756-2864,1756-2856
E-ISSN
1756-2864
DOI
10.1177/1756286419872115
