A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report

BACKGROUND: Red cell pyruvate kinase deficiency (PKD) is a defect of glycolysis causing congenital non-spherocytic hemolytic anemia. PKD is transmitted as an autosomal recessive trait. The clinical features of PKD are highly variable, from mild to life-threatening anemia which can lead to death in t...

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Detalles Bibliográficos
Autores principales: Maciak, Karolina, Adamowicz-Salach, Anna, Poznanski, Jaroslaw, Gora, Monika, Fronk, Jan, Burzynska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655982/
https://www.ncbi.nlm.nih.gov/pubmed/33193643
http://dx.doi.org/10.3389/fgene.2020.560248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655982/
https://www.ncbi.nlm.nih.gov/pubmed/33193643
http://dx.doi.org/10.3389/fgene.2020.560248

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