1.
J Pediatr
; 150(4): 443-5, 2007 Apr.
Article
de Anglais
| MEDLINE
| ID: mdl-17382129
RÉSUMÉ
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.