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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ünal, Şule, Rupar, Tony, Yetgin, Sevgi, Yaralı, Neşe, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805327/
https://www.ncbi.nlm.nih.gov/pubmed/25914105
http://dx.doi.org/10.4274/tjh.2014.0154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805327/
https://www.ncbi.nlm.nih.gov/pubmed/25914105
http://dx.doi.org/10.4274/tjh.2014.0154

Ejemplares similares