Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: Clinical and molecular studies

British Journal of Haematology

Volumn 112, Issue 2, 2001, Pages 475-482

  Corrons, Joan Lluis Vives ^a   Alvarez, Rodolfo ^a   Pujades, Assumpta ^a   Zarza, Rocío ^a   Oliva, Elvira ^b   Lasheras, German ^c   Callis, Manuel ^d   Ribes, Antonia ^e   Gelbart, Terri ^f   Beutler, Ernest ^f  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Haematology Department   (Spain)

^c Hospital San Juan de Dios de Santurce   (Spain)

^d HOSPITAL GENERAL DE CATALUNYA   (Spain)

^e Institut de Bioquimica Clinica Barcelona   (Spain)

^f SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Enzymopathy; Glutathione synthetase; Haemolytic anaemia; Red cell

Indexed keywords

ERYTHROCYTE ENZYME; FRUCTOSE BISPHOSPHATE ALDOLASE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTATHIONE SYNTHASE; HEXOKINASE; HYDROGEN PEROXIDE; MALONALDEHYDE; PYRUVATE KINASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL EXAMINATION; DNA DETERMINATION; ENZYME DEFICIENCY; FAVISM; FEMALE; GENE MUTATION; GENETIC DISORDER; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; INFANT; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; RETICULOCYTE COUNT; SPAIN; SPLENECTOMY; SPLENOMEGALY;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL; ERYTHROCYTES; FEMALE; GLUTATHIONE SYNTHASE; HUMANS; INFANT; MALE; MALONDIALDEHYDE; MIDDLE AGED; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRROLIDONECARBOXYLIC ACID; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPAIN;

EID: 0035120660     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02526.x     Document Type: Article

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