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4. The gamma-glutamyl cycle and amino acid transport. Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase deficiency). Hagenfeldt L, Larsson A, Andersson R. N Engl J Med; 1978 Sep 14; 299(11):587-90. PubMed ID: 28482 [No Abstract] [Full Text] [Related]
5. Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). Larsson A, Wachtmeister L, von Wendt L, Andersson R, Hagenfeldt L, Herrin KM. Neuropediatrics; 1985 Aug 14; 16(3):131-6. PubMed ID: 4047346 [Abstract] [Full Text] [Related]
11. [Pyroglutamic acidemia]. Bourgeois J. Pediatrie; 1977 Dec 14; 32(1):85-93. PubMed ID: 850614 [No Abstract] [Full Text] [Related]
12. A newborn infant with generalized glutathione synthetase deficiency. Yapicioğlu H, Satar M, Tutak E, Narli N, Topaloğlu AK. Turk J Pediatr; 2004 Dec 14; 46(1):72-5. PubMed ID: 15074378 [Abstract] [Full Text] [Related]
13. Glutathione synthetase deficiency: a family report. Pejaver RK, Watson AH. J R Soc Med; 1994 Mar 14; 87(3):171. PubMed ID: 8158601 [Abstract] [Full Text] [Related]
14. 5-Oxoprolinuria due to glutathione synthetase deficiency. Pejaver RK, Watson AH. J Inherit Metab Dis; 1992 Mar 14; 15(6):937-8. PubMed ID: 1293394 [No Abstract] [Full Text] [Related]
15. Erythrocyte glutathione synthetase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes. Larsson A, Zetterström R, Hörnell H, Porath U. Clin Chim Acta; 1976 Nov 15; 73(1):19-23. PubMed ID: 11905 [Abstract] [Full Text] [Related]
16. Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). Wellner VP, Sekura R, Meister A, Larsson A. Proc Natl Acad Sci U S A; 1974 Jun 15; 71(6):2505-9. PubMed ID: 4152248 [Abstract] [Full Text] [Related]
17. Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up. Ekuni S, Hirayama K, Nagasaka M, Osumi K, Kondo H, Nakahara E, Shimojima Yamamoto K, Kanno H, Katayama Y. Am J Case Rep; 2023 Apr 13; 24():e938396. PubMed ID: 37050856 [Abstract] [Full Text] [Related]
18. Glutathione synthetase deficient human fibroblasts in culture. Larsson A, Mattsson B, Hagenfeldt L, Moldéus P. Clin Chim Acta; 1983 Nov 30; 135(1):57-64. PubMed ID: 6652919 [Abstract] [Full Text] [Related]
19. Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. Beutler E, Gelbart T, Pegelow C. J Clin Invest; 1986 Jan 30; 77(1):38-41. PubMed ID: 3944259 [Abstract] [Full Text] [Related]
20. A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). Mårtensson J, Gustafsson J, Larsson A. J Inherit Metab Dis; 1989 Jan 30; 12(2):120-30. PubMed ID: 2502672 [Abstract] [Full Text] [Related] Page: [Next] [New Search]