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.