Article
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.
Haematologica - 1 Dec 2011
Darghouth Dhouha, Koehl Bérengère, Heilier Jean François, Madalinski Geoffrey, Bovee Petra, Bosman Giel, Delaunay Jean, Junot Christophe, Roméo Paul-Henri
Abstract excerpt
Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due to the diminished...
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