282
Views
5
CrossRef citations to date
0
Altmetric
Original Articles

Hemolytic Anemia and Metabolic Acidosis: Think about Glutathione Synthetase Deficiency

, , , , &
Pages 18-20 | Received 11 Feb 2014, Accepted 14 Jul 2014, Published online: 28 Aug 2014

REFERENCES

  • Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis. 2007;30:2–16.
  • Njalsson R, Ristoff E, Carlsson K, et al. Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet 2005;116(5):384–389.
  • Meister A, Anderson ME. Glutathione. Annu Rev Biochem 1983;52:711–760.
  • Simon E, Vogel M, Fingerhut R, et al. Diagnosis of glutathione synthetase deficiency in newborn screening. J Inherit Metab Dis. 2009;32 Suppl 1:S269—S272.
  • Prchal JT, Crist WM, Roper M, Wellner VP. Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. Blood. 1983 Oct;62(4):754–757.
  • Yapicioğlu H, Satar M, Tutak E, et al. A newborn infant with generalized glutathione synthetase deficiency. Turk J Pediatr. 2004 Jan-Mar;46(1):72–75.
  • Ristoff E, Mayatepek E, Larsson A. Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr. 2001;139:79–84.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.