An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. Journal article; 2012; J Clin Endocrinol Metab Links: IRIS | UCL Discovery | Author's | DOI Authors: Bawazir WM,Gevers EF,Flatt JF,Ang AL,Jacobs B,Oren C,Grunewald S,Dattani M,Bruce LJ,Stewart GW click to collapse A haemato-neurological disease caused by mutations in SLC2A1, coding for the GLUT1 glucose transporter Conference ; 2011; BRITISH JOURNAL OF HAEMATOLOGY Links: IRIS | UCL Discovery | Author's Authors: Flatt JF,Guizouarn H,Burton N,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ click to collapse South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects. Journal article; 2011; Br J Haematol Links: IRIS | UCL Discovery | Author's | DOI Authors: Guizouarn H,Borgese F,Gabillat N,Harrison P,Goede JS,McMahon C,Stewart GW,Bruce LJ click to collapse Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome Journal article; 2011; BLOOD Links: IRIS | UCL Discovery | Author's | DOI Authors: Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ click to collapse Anion exchanger 1: Protean function and associations. Journal article; 2010; Int J Biochem Cell Biol Links: IRIS | UCL Discovery | Author's | DOI Authors: Walsh SB,Stewart GW click to collapse Core Clinical Medicine. Clinical talk. Book; 2010; Links: IRIS | UCL Discovery Authors: Stewart GW Leaky Cl- -HCO3- exchangers: cation fluxes via modified AE1 Journal article; 2009; PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES Links: IRIS | UCL Discovery | Author's | DOI Authors: Ellory JC,Guizouarn H,Borgese F,Bruce LJ,Wilkins RJ,Stewart GW click to collapse The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein Journal article; 2009; BLOOD Links: IRIS | UCL Discovery | Author's | DOI Authors: Bruce LJ,Guizouarn H,Burton NM,Gabillat N,Poole J,Flatt JF,Brady RL,Borgese F,Delaunay J,Stewart GW click to collapse Membrane raft actin deficiency and altered Ca(2+)-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis Journal article; 2008; BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES Links: IRIS | UCL Discovery | Author's | DOI Authors: Wilkinson DK,Turner EJ,Parkin ET,Garner AE,Penny JH,Crawford M,Stewart GW,Hooper NM click to collapse Characterization of red cell membrane proteins as a function of red cell density: Annexin VII in different forms of hereditary spherocytosis Journal article; 2006; FEBS LETTERS Links: IRIS | UCL Discovery | Author's | DOI Authors: Caterino M,Ruoppolo M,Orru S,Savoia M,Perrotta S,Del Vecchio L,Salvatore F,Stewart GW,Iolascon A click to collapse Mediterranean stomatocytosis/macrothrombocytopenia: Update from Adelaide, Australia Journal article; 2006; BRITISH JOURNAL OF HAEMATOLOGY Links: IRIS | UCL Discovery | Author's | DOI Authors: Stewart GW,Lloyd J,Pegel K click to collapse Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis Journal article; 2006; CLINICAL AND LABORATORY HAEMATOLOGY Links: IRIS | UCL Discovery | Author's | DOI Authors: Syfuss P-Y,Ciupea A,Brahimi S,Cynober T,Stewart GW,Grandchamp B,Beaumont C,Tchernia G,Delaunay J,Wagner J-C click to collapse Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Journal article; 2005; Nature Genetics Links: IRIS | UCL Discovery | Author's | DOI Authors: Bruce LJ,Robinson HC,Guizouarn H,Borgese F,Harrison P,King MJ,Goede JS,Coles SE,Gore DM,Lutz HU,Ficarella R,Layton M,Iolascon A,Ellory JC,Stewart GW click to collapse Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes. Journal article; 2005; British Journal of Haematology Links: IRIS | UCL Discovery | Author's Authors: Fricke B,Parsons SF,Knopfle G,von During M,Stewart GW click to collapse Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia Journal article; 2005; BRITISH JOURNAL OF HAEMATOLOGY Links: IRIS | UCL Discovery | Author's | DOI Authors: Rees DC,Iolascon A,Carella M,O'Marcaigh AS,Kendra JR,Jowitt SN,Wales JK,Vora A,Makris M,Manning N,Nicolaou A,Fisher J,Mann A,Machin SJ,Clayton PT,Gasparini P,Stewart GW click to collapse Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia Journal article; 2005; British Journal of Haematology Links: IRIS | UCL Discovery | DOI Authors: Rees DC,Iolascon A,Carella M,O'Marcaigh AS,Kendra JR,Jowitt SN,Wales JK,Vora A,Makris M,Manning N,Nicolaou A,Fisher J,Mann A,Machin SJ,Clayton PT,Gasparini P,Stewart GW click to collapse A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene. Journal article; 2004; Journal of Inherited Metabolic Disease Links: IRIS | UCL Discovery | Author's Authors: Argent AC,Chetty MC,Fricke B,Bertrand Y,Philippe N,Khogali S,von During M,Delaunay J,Stewart GW click to collapse A second locus mapping to 2q35-36 for familial pseudohyperkalaemia Journal article; 2004; European Journal of Human Genetics Links: IRIS | UCL Discovery | Author's Authors: Carella M,d'Adamo AP,Grootenboer-Mignot S,Vantyghem MC,Esposito L,D'Eustacchio A,Ficarella R,Stewart GW,Gasparini P,Delaunay J,Iolascon A click to collapse Dehydrated hereditary stomatocytosis is associated with neonatal hepatitis. Journal article; 2004; British Journal of Haematology Links: IRIS | UCL Discovery | Author's Authors: Rees DC,Portmann B,Ball C,Mieli-Vergani G,Nicolaou A,Chetty MC,Stewart GW click to collapse Disorders of the Red Cell Membrane Chapter; 2004; Links: IRIS | UCL Discovery Authors: Stewart GW,Delaunay J click to collapse