title: Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
abstract: We report a 3-year-old boy with glutathione synthetase deficiency, who in the newborn period developed severe persistent haemolytic anaemia. Treatment with erythropoietin was introduced with good clinical and haematological response.
authors.affiliation: Division of Metabolic Diseases, Department of Paediatrics, The Children's Memorial Health Institute, 04-736 Warsaw, Al. Dzieci Polskich 20, Poland. cegielska@czd.waw.pl
authors.forename: J
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: A
authors.initials: A
authors.lastname: Jurecka
authors.forename: J
authors.initials: J
authors.lastname: Taybert
authors.forename: W
authors.initials: W
authors.lastname: Gradowska
authors.forename: M
authors.initials: M
authors.lastname: Pajdowska
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
mesh_terms: D000743:Anemia, Hemolytic / Q000150:complications / Q000175:diagnosis; D002675:Child, Preschool; D004912:Erythrocytes / Q000378:metabolism; D004921:Erythropoietin / Q000627:therapeutic use*; D005347:Fibroblasts / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D005981:Glutathione Synthase / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000188:drug therapy*; D016877:Oxidants / Q000378:metabolism; D011761:Pyrrolidonecarboxylic Acid / Q000032:analysis
chemical_list: D016877:Oxidants; D004921:Erythropoietin; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid