Bianchi, Paola; Fermo, Elisa; Lezon-Geyda, Kimberly; van Beers, Eduard; Morton, D Holmes; Barcellini, Wilma; Glader, Bertil; Chonat, Satheesh; Ravindranath, Yaddanapudi; Newburger, Peter; Kollmar, Nina; Despotovic, Jenny; Verhovsek, Madeleine; Sharma, Mukta; Kwiatkowski, Janet L; Kuo, Kevin H M; Wlodarski, Marcin; Yaish, Hassan; Holzhauer, Susanne; Wang, Heng; Kunz, Joachim; Addonizio, Kathryn; Al-Sayegh, Hasan; London, Wendy; Andres, Oliver; van Wijk, Richard; Gallagher, Patrick G; Grace, Rachael
(John Wiley & Sons Inc., 2020-05)
Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features of 257 patients enrolled in the PKD Natural History Study. Of ...