Transcobalamin II Deficiency in Four Cases with Novel Mutations
Transcobalamin II Deficiency in Four Cases with Novel Mutations
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Publisher
Turkey: Galenos Publishing
Journal title
Language
English
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Publisher
Turkey: Galenos Publishing
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Scope and Contents
Contents
Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels.
Herein, we de...
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Full title
Transcobalamin II Deficiency in Four Cases with Novel Mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_acf8edcd3d2c45dd8ca63f7fd186db9f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_acf8edcd3d2c45dd8ca63f7fd186db9f
Other Identifiers
ISSN
1300-7777
E-ISSN
1308-5263
DOI
10.4274/Tjh.2014.0154
