These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. Njålsson R; Carlsson K; Winkler A; Larsson A; Norgren S Hum Mutat; 2003 Dec; 22(6):497. PubMed ID: 14635114 [TBL] [Abstract][Full Text] [Related]
7. A newborn infant with generalized glutathione synthetase deficiency. Yapicioğlu H; Satar M; Tutak E; Narli N; Topaloğlu AK Turk J Pediatr; 2004; 46(1):72-5. PubMed ID: 15074378 [TBL] [Abstract][Full Text] [Related]
8. Physiological and pathological aspects of GSH metabolism. Njålsson R; Norgren S Acta Paediatr; 2005 Feb; 94(2):132-7. PubMed ID: 15981742 [TBL] [Abstract][Full Text] [Related]
9. Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. Fakhoury O; Conrath J; Donnadieu B; Warrak R; Matonti F J Fr Ophtalmol; 2018 Feb; 41(2):116-121. PubMed ID: 29395598 [TBL] [Abstract][Full Text] [Related]
10. Inborn errors in the metabolism of glutathione. Ristoff E; Larsson A Orphanet J Rare Dis; 2007 Mar; 2():16. PubMed ID: 17397529 [TBL] [Abstract][Full Text] [Related]
11. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. Atwal PS; Medina CR; Burrage LC; Sutton VR J Hum Genet; 2016 Jul; 61(7):669-72. PubMed ID: 26984560 [TBL] [Abstract][Full Text] [Related]
12. Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. Lloyd AJ; Gray RG; Green A J Inherit Metab Dis; 1995; 18(1):48-55. PubMed ID: 7623442 [TBL] [Abstract][Full Text] [Related]
13. Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiency. Ristoff E; Larsson A J Inherit Metab Dis; 2002 May; 25(3):223-6. PubMed ID: 12137231 [TBL] [Abstract][Full Text] [Related]
14. Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency. Mayatepek E; Meissner T; Gröbe H J Inherit Metab Dis; 2004; 27(2):297-9. PubMed ID: 15243994 [TBL] [Abstract][Full Text] [Related]