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Journal Abstract Search

149 related items for PubMed ID: 11445798

  • 1. Long-term clinical outcome in patients with glutathione synthetase deficiency.
    Ristoff E, Mayatepek E, Larsson A.
    J Pediatr; 2001 Jul; 139(1):79-84. PubMed ID: 11445798
    [Abstract] [Full Text] [Related]

  • 2. A newborn infant with generalized glutathione synthetase deficiency.
    Yapicioğlu H, Satar M, Tutak E, Narli N, Topaloğlu AK.
    Turk J Pediatr; 2004 Jul; 46(1):72-5. PubMed ID: 15074378
    [Abstract] [Full Text] [Related]

  • 3. Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
    Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P.
    Hum Mol Genet; 1997 Jul; 6(7):1147-52. PubMed ID: 9215686
    [Abstract] [Full Text] [Related]

  • 4. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
    Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M.
    Fetal Pediatr Pathol; 2015 Feb; 34(1):18-20. PubMed ID: 25166299
    [Abstract] [Full Text] [Related]

  • 5. Biochemical heterogeneity in glutathione synthetase deficiency.
    Spielberg SP, Garrick MD, Corash LM, Butler JD, Tietze F, Rogers L, Schulman JD.
    J Clin Invest; 1978 Jun; 61(6):1417-20. PubMed ID: 659603
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  • 6. 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; 16(3):131-6. PubMed ID: 4047346
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.
    Fattal-Valevski A, Kesler A, Sela BA, Nitzan-Kaluski D, Rotstein M, Mesterman R, Toledano-Alhadef H, Stolovitch C, Hoffmann C, Globus O, Eshel G.
    Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431
    [Abstract] [Full Text] [Related]

  • 9. 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; 77(1):38-41. PubMed ID: 3944259
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  • 11. 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]

  • 12. Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency.
    Nygren J, Ristoff E, Carlsson K, Möller L, Larsson A.
    Free Radic Res; 2005 Jun 15; 39(6):595-601. PubMed ID: 16036337
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  • 14. 5-oxoprolinuria: biochemical observations and case report.
    Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD.
    J Pediatr; 1977 Aug 15; 91(2):237-41. PubMed ID: 874680
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  • 17. A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
    Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S.
    J Pediatr Hematol Oncol; 2018 Jan 15; 40(1):e45-e49. PubMed ID: 28267090
    [Abstract] [Full Text] [Related]

  • 18. Glutathione synthetase deficiency: a novel mutation with femur agenesis.
    Guney Varal I, Dogan P, Gorukmez O, Dorum S, Akdag A.
    Fetal Pediatr Pathol; 2020 Feb 15; 39(1):38-44. PubMed ID: 31198081
    [Abstract] [Full Text] [Related]

  • 19. Decrease in oxidative stress through supplementation of vitamins C and E is associated with a reduction in blood pressure in patients with essential hypertension.
    Rodrigo R, Prat H, Passalacqua W, Araya J, Bächler JP.
    Clin Sci (Lond); 2008 May 15; 114(10):625-34. PubMed ID: 17999638
    [Abstract] [Full Text] [Related]

  • 20. Vitamins and quality of life in hemodialysis patients.
    Mydlik M, Derzsiová K.
    J Nephrol; 2008 May 15; 21 Suppl 13():S129-33. PubMed ID: 18446746
    [Abstract] [Full Text] [Related]

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