Article
Prevalence of pyruvate kinase deficiency: A systematic literature review.
European journal of haematology - 1 Aug 2020
Secrest Matthew H, Storm Mike, Carrington Courtney, Casso Deborah, Gilroy Keely, Pladson Leanne, Boscoe Audra N
Abstract excerpt
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-reviewed references reporting PK deficiency prevalence/incidence, PKLR mutant allele frequency (MAF) among the general...
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