Atıf İçin Kopyala
ÜNAL S., Rupar T., Yetgin S., Yarali N., DURSUN A., Gursel T., ...Daha Fazla
TURKISH JOURNAL OF HEMATOLOGY, cilt.32, sa.4, ss.317-322, 2015 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
32
Sayı:
4
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Basım Tarihi:
2015
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Doi Numarası:
10.4274/tjh.2014.0154
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Dergi Adı:
TURKISH JOURNAL OF HEMATOLOGY
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
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Sayfa Sayıları:
ss.317-322
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Anahtar Kelimeler:
Vitamin B12, Transcobalamin II, Novel mutation, Novel deletion, Vacuolization, INTRINSIC-FACTOR, COBALAMIN DEFICIENCY, MEGALOBLASTIC-ANEMIA, GENE, IDENTIFICATION, CHILDREN
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Gazi Üniversitesi Adresli:
Evet
Özet
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.