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Prevalence of pyruvate kinase deficiency: A systematic literature review

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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… Click to show full abstract

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.

Keywords: pyruvate kinase; kinase deficiency; deficiency; systematic literature; literature review

Journal Title: European Journal of Haematology
Year Published: 2020

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