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Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency
Author(s) -
SykutCegielska J.,
Jurecka A.,
Taybert J.,
Gradowska W.,
Pajdowska M.,
Pronicka E.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0156-0
Subject(s) - erythropoietin , glutathione , medicine , glutathione synthetase , human genetics , endocrinology , enzyme , biology , biochemistry , gene
Summary 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.