A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

BACKGROUND: Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic...

Descripción completa

Detalles Bibliográficos
Autores principales: Sivashangar, Ahalyaa, Gooneratne, Lallindra, Clark, Barnaby, Rees, David, Jayasinghe, Saroj, Laas, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314513/
https://www.ncbi.nlm.nih.gov/pubmed/34311792
http://dx.doi.org/10.1186/s13256-021-02972-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314513/
https://www.ncbi.nlm.nih.gov/pubmed/34311792
http://dx.doi.org/10.1186/s13256-021-02972-6

Ejemplares similares