Cobalamin C defect: natural history, pathophysiology, and treatment
Cobalamin C defect: natural history, pathophysiology, and treatment
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Publisher
Dordrecht: Dordrecht : Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Dordrecht : Springer Netherlands
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Scope and Contents
Contents
Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible for...
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Full title
Cobalamin C defect: natural history, pathophysiology, and treatment
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TN_cdi_proquest_journals_847115467
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_847115467
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-010-9161-z
