TURKISH JOURNAL OF HEMATOLOGY, vol.32, no.4, pp.317-322, 2015 (Peer-Reviewed Journal)
Article / Article
TURKISH JOURNAL OF HEMATOLOGY
Science Citation Index Expanded, Scopus, TR DİZİN (ULAKBİM)
Vitamin B12, Transcobalamin II, Novel mutation, Novel deletion, Vacuolization, INTRINSIC-FACTOR, COBALAMIN DEFICIENCY, MEGALOBLASTIC-ANEMIA, GENE, IDENTIFICATION, CHILDREN
Objective: 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.