Prevalence of pyruvate kinase deficiency: A systematic literature review

OBJECTIVES: Pyruvate kinase deficiency (PK deficiency) is a rare disorder caused by compound heterozygosity or homozygosity for > 300 mutations in the PKLR gene. To understand PK deficiency prevalence, we conducted a systematic literature review. METHODS: We queried Embase and Medline for peer‐re...

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Detalles Bibliográficos
Autores principales: Secrest, Matthew H., Storm, Mike, Carrington, Courtney, Casso, Deborah, Gilroy, Keely, Pladson, Leanne, Boscoe, Audra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496626/
https://www.ncbi.nlm.nih.gov/pubmed/32279356
http://dx.doi.org/10.1111/ejh.13424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496626/
https://www.ncbi.nlm.nih.gov/pubmed/32279356
http://dx.doi.org/10.1111/ejh.13424

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