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...
Main Authors: | Maria Carolina Costa Melo Svidnicki, Andrey Santos, Jhonathan Angel Araujo Fernandez, Ana Paula Hitomi Yokoyama, Isis Quezado Magalhães, Vitoria Regia Pereira Pinheiro, Silvia Regina Brandalise, Paulo Augusto Achucarro Silveira, Fernando Ferreira Costa, Sara Teresinha Olalla Saad |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2018-01-01
|
Series: | Hematology, Transfusion and Cell Therapy |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1516848417301305 |
Similar Items
-
Pyruvate Kinase Deficiency Causing Priapism
by: Vinay Hanyalu Shankar, et al.
Published: (2023-01-01) -
Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial
by: David A. Andrae, et al.
Published: (2023-11-01) -
Pyruvate Kinase Deficiency: Current Challenges and Future Prospects
by: Fattizzo B, et al.
Published: (2022-09-01) -
Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients
by: Micaela K. Roy, et al.
Published: (2021-10-01) -
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
by: Anna Zaninoni, et al.
Published: (2023-03-01)