Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency

BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia. Here, we summarized the clinical features and laboratory examinations of four Chinese children with PKD and analyze genomic mutations. METHOD: Collected and analyzed the clinical data of all children and their parent...

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Detalles Bibliográficos
Autores principales: Xie, Fei, Gan, Lu, Lei, Lei, Cai, Tengguang, Gao, Yu, Liu, Xiaoying, Cai, Bin, Zhou, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655518/
https://www.ncbi.nlm.nih.gov/pubmed/37466302
http://dx.doi.org/10.1002/mgg3.2239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655518/
https://www.ncbi.nlm.nih.gov/pubmed/37466302
http://dx.doi.org/10.1002/mgg3.2239

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