Journal article
Pyruvate kinase deficiency in children
Abstract
BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.
METHODS: An international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from 29 centers. Retrospective and prospective clinical data were collected.
Authors
Chonat S; Eber SW; Holzhauer S; Kollmar N; Morton DH; Glader B; Neufeld EJ; Yaish HM; Rothman JA; Sharma M
Journal
Pediatric Blood & Cancer, Vol. 68, No. 9,
Publisher
Wiley
Publication Date
September 2021
DOI
10.1002/pbc.29148
ISSN
1545-5009