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Peer reviewed
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Pissard, Serge, MD, PhD; de Montalembert, Mariane, MD; Bachir, Dora, MD; Max-Audit, Isabelle, MD, PhD; Goossens, Michel, MD; Wajcman, Henri, MD, PhD; Bader-Meunier, Brigitte, MD
The Journal of pediatrics, 04/2007, Volume: 150, Issue: 4Journal Article
Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes life-threatening. We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth.
