Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey

OBJECTIVE: Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytope...

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Detalles Bibliográficos
Autores principales: Ünal, Selma, Karahan, Feryal, Arıkoğlu, Tuğba, Akar, Asuman, Kuyucu, Semanur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373502/
https://www.ncbi.nlm.nih.gov/pubmed/30185401
http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373502/
https://www.ncbi.nlm.nih.gov/pubmed/30185401
http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0230

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