Literature DB >> 16435214

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

J Sykut-Cegielska1, A Jurecka, J Taybert, W Gradowska, M Pajdowska, E Pronicka.   

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.

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Year:  2005        PMID： 16435214     DOI： 10.1007/s10545-005-0156-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  5-Oxoprolinuria: a cause of neonatal metabolic acidosis.

Authors:  D Mitanchez; D Rabier; M Mokhtari; X Durrmeyer; A Menget; A Larsson; J M Saudubray
Journal:  Acta Paediatr       Date:  2001-07       Impact factor: 2.299

2.  Long-term clinical outcome in patients with glutathione synthetase deficiency.

Authors:  E Ristoff; E Mayatepek; A Larsson
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

3.  Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.

Authors:  E Al-Jishi; B F Meyer; M S Rashed; M Al-Essa; M H Al-Hamed; N Sakati; S Sanjad; P T Ozand; M Kambouris
Journal:  Clin Genet       Date:  1999-06       Impact factor: 4.438
  3 in total
  1 in total

1.  A case of severe glutathione synthetase deficiency with novel GSS mutations.

Authors:  H Xia; J Ye; L Wang; J Zhu; Z He
Journal:  Braz J Med Biol Res       Date:  2018-01-11       Impact factor: 2.590
  1 in total

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