Okur, Volkan; Cho, Megan T; van Wijk, Richard; van Oirschot, Brigitte; Picker, Jonathan; Coury, Stephanie A; Grange, Dorothy; Manwaring, Linda; Krantz, Ian; Muraresku, Colleen Clark; Hulick, Peter J; May, Holley; Pierce, Eric; Place, Emily; Bujakowska, Kinga; Telegrafi, Aida; Douglas, Ganka; Monaghan, Kristin G; Begtrup, Amber; Wilson, Ashley; Retterer, Kyle; Anyane-Yeboa, Kwame; Chung, Wendy K
(Springer Nature, 2019-07)
Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic ...