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- W2000286996 abstract "We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice." @default.
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- W2000286996 date "2014-01-01" @default.
- W2000286996 modified "2023-09-27" @default.
- W2000286996 title "A Previously Unknown Mutation in the Pyruvate Kinase Gene <b><i>(PKLR)</i></b> Identified from a Neonate with Severe Jaundice" @default.
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- W2000286996 doi "https://doi.org/10.1159/000363219" @default.
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