Novel mutations associated with pyruvate kinase deficiency in Brazil

BACKGROUND: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on t...

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Detalles Bibliográficos
Autores principales: Svidnicki, Maria Carolina Costa Melo, Santos, Andrey, Fernandez, Jhonathan Angel Araujo, Yokoyama, Ana Paula Hitomi, Magalhães, Isis Quezado, Pinheiro, Vitoria Regia Pereira, Brandalise, Silvia Regina, Silveira, Paulo Augusto Achucarro, Costa, Fernando Ferreira, Saad, Sara Teresinha Olalla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Hematologia e Hemoterapia 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003125/
https://www.ncbi.nlm.nih.gov/pubmed/29519373
http://dx.doi.org/10.1016/j.bjhh.2017.08.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003125/
https://www.ncbi.nlm.nih.gov/pubmed/29519373
http://dx.doi.org/10.1016/j.bjhh.2017.08.007

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