Article
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Blood - 17 May 2018
Grace Rachael F, Bianchi Paola, van Beers Eduard J, Eber Stefan W, Glader Bertil, Yaish Hassan M, Despotovic Jenny M, Rothman Jennifer A, Sharma Mukta, McNaull Melissa M, Fermo Elisa, Lezon-Geyda Kimberly, Morton D Holmes, Neufeld Ellis J, Chonat Satheesh, Kollmar Nina, Knoll Christine M, Kuo Kevin, Kwiatkowski Janet L, Pospíšilová Dagmar, Pastore Yves D, Thompson Alexis A, Newburger Peter E, Ravindranath Yaddanapudi, Wang Winfred C, Wlodarski Marcin W, Wang Heng, Holzhauer Susanne, Breakey Vicky R, Kunz Joachim, Sheth Sujit, Rose Melissa J, Bradeen Heather A, Neu Nolan, Guo Dongjing, Al-Sayegh Hasan, London Wendy B, Gallagher Patrick G, Zanella Alberto, Barcellini Wilma
Abstract excerpt
An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal...
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