Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: Association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction

British Journal of Haematology

Volumn 125, Issue 6, 2004, Pages 796-803

  Fricke, Britta ^a   Jarvis, Helen G ^b   Reid, Cecil D L ^c   Aguilar Martinez, Patricia ^d   Robert, A ^e   Quittet, P ^d   Chetty, Margaret ^b   Pizzey, Arnold ^b   Cynober, Thérèse ^f   Lande, William F ^g   Mentzer, William C ^h   Von Düring, Monika ^a   Winter, Stuart ⁱ   Delaunay, Jean ^f   Stewart, Gordon W ^b  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NORTHWICK PARK HOSPITAL   (United Kingdom)

^d HÔPITAL SAINT ELOI   (France)

^e HÔPITAL DES ENFANTS   (France)

^f BICÊTRE HOSPITAL   (France)

^g NAVAL MEDICAL CENTER SAN DIEGO   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

Cataracts; Congenital haemolytic anaemia; Hepatomegaly; Seizures; Stomatin

Indexed keywords

STOMATIN;

ARTICLE; BLOOD STAIN; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRYOHYDROCYTOSIS; ERYTHROCYTE FRAGILITY; ERYTHROCYTE MEMBRANE; FEMALE; HEPATOSPLENOMEGALY; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOREACTIVITY; MALE; MENTAL DEFICIENCY; NEUROLOGICAL COMPLICATION; NEUTROPHIL; PEDIGREE; POTASSIUM CELL LEVEL; PRIORITY JOURNAL; ROOM TEMPERATURE; SEIZURE SUSCEPTIBILITY; SODIUM CELL LEVEL; STOMATOCYTOSIS; TEMPERATURE DEPENDENCE; THROMBOCYTE MEMBRANE; WESTERN BLOTTING;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BLOOD PROTEINS; BLOTTING, WESTERN; ERYTHROCYTE MEMBRANE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; PEDIGREE; SYNDROME;

EID: 2342610023     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04965.x     Document Type: Article

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