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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...

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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

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