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pro vyhledávání: '"KarenAnn Kalinyak"'
Autor:
Benjamin Mizukawa, KarenAnn Kalinyak, James E. Heubi, Alex George, Lana Weckbach, Suvarnamala Pushkaran, Theodosia A. Kalfa
Publikováno v:
Pediatric Blood & Cancer. 56:840-842
We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A>T, p.N346I), found in combination with G6PD Gastonia (c.637G>T, p.V213L) in an infant who presented with neonatal cholestasis. The
Publikováno v:
Blood. 112:4792-4792
Chronic Transfusion Therapy (CTT) is increasingly important in the treatment of sickle cell disease (SCD), and is now the standard of care for primary and secondary stroke prevention in pediatric patients. However, little is known about its effects o