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Transcobalamin II Deficiency in Four Cases with Novel Mutations

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...

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Vydáno v:Turk J Haematol
Hlavní autoři: Ünal, Şule, Rupar, Tony, Yetgin, Sevgi, Yaralı, Neşe, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4805327/
https://ncbi.nlm.nih.gov/pubmed/25914105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/tjh.2014.0154
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