Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome
JF Flatt, H Guizouarn, NM Burton… - Blood, The Journal …, 2011 - ashpublications.org
The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in
which the permeability of the erythrocyte membrane to monovalent cations is pathologically …
which the permeability of the erythrocyte membrane to monovalent cations is pathologically …
Four new cases of stomatin‐deficient hereditary stomatocytosis syndrome: association of the stomatin‐deficient cryohydrocytosis variant with neurological dysfunction
B Fricke, HG Jarvis, CDL Reid… - British journal of …, 2004 - Wiley Online Library
This report concerns congenitally Na+–K+ leaky red cells of the 'hereditary stomatocytosis'
class. Three new isolated cases and one new pedigree are described, and one previously …
class. Three new isolated cases and one new pedigree are described, and one previously …
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations
J Delaunay - Seminars in hematology, 2004 - Elsevier
The hereditary stomatocytoses are mostly accounted for by genetic disorders of red cell
membrane permeability to monovalent cations. These conditions, all very rare, are …
membrane permeability to monovalent cations. These conditions, all very rare, are …
Stomatin is mis‐trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac‐derived erythrocytes
B Fricke, SF Parsons, G Knöpfle… - British journal of …, 2005 - Wiley Online Library
The 32 kD lipid‐raft‐associated membrane protein 'stomatin'is deficient from the erythrocyte
membrane in the Na+–K+ leaky haemolytic anaemia, overhydrated hereditary …
membrane in the Na+–K+ leaky haemolytic anaemia, overhydrated hereditary …
Hereditary dehydrated and overhydrated stomatocytosis: recent advances
J Delaunay, G Stewart, A Iolascon - Current opinion in hematology, 1999 - journals.lww.com
The hereditary stomatocytoses and allied disorders are genetic defects of the erythrocyte
membrane that result in abnormal permeability to the univalent cations Na+ and K+ …
membrane that result in abnormal permeability to the univalent cations Na+ and K+ …
Hereditary stomatocytosis: an underdiagnosed condition
Hereditary stomatocytoses are a wide class of hemolytic anemias characterized by
alterations of ionic flux with increased cation permeability that results in inappropriate …
alterations of ionic flux with increased cation permeability that results in inappropriate …
[HTML][HTML] A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis
A Iolascon, L De Falco, F Borgese, MR Esposito… - …, 2009 - ncbi.nlm.nih.gov
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated
with dyserythropoiesis - PMC Back to Top Skip to main content NIH NLM Logo Access keys …
with dyserythropoiesis - PMC Back to Top Skip to main content NIH NLM Logo Access keys …
[HTML][HTML] The molecular basis for altered cation permeability in hereditary stomatocytic human red blood cells
JF Flatt, LJ Bruce - Frontiers in Physiology, 2018 - frontiersin.org
Normal human RBCs have a very low basal permeability (leak) to cations, which is
continuously corrected by the Na, K-ATPase. The leak is temperature-dependent, and this …
continuously corrected by the Na, K-ATPase. The leak is temperature-dependent, and this …
Hereditary stomatocytosis and cation leaky red cells—recent developments
LJ Bruce - Blood Cells, Molecules, and Diseases, 2009 - Elsevier
The hereditary stomatocytoses (HSt) are a diverse group of conditions. Common features
include hemolytic anemia, a red cell cation leak and morphological changes, but the severity …
include hemolytic anemia, a red cell cation leak and morphological changes, but the severity …
The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K
GW Stewart, EJH Turner - Best Practice & Research Clinical Haematology, 1999 - Elsevier
The hereditary stomatocytoses and allied disorders are a set of dominantly inherited
haemolytic anaemias in which the plasma membrane of the red cell 'leaks' sodium and …
haemolytic anaemias in which the plasma membrane of the red cell 'leaks' sodium and …