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Journal Abstract Search

324 related items for PubMed ID: 15074378

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A case of severe glutathione synthetase deficiency with novel GSS mutations.
    Xia H, Ye J, Wang L, Zhu J, He Z.
    Braz J Med Biol Res; 2018 Jan 11; 51(3):e6853. PubMed ID: 29340523
    [Abstract] [Full Text] [Related]

  • 4. [Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)].
    Boivin P, Galand C, Schaison G.
    Nouv Presse Med; 1978 May 06; 7(18):1531-5. PubMed ID: 673703
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
    Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW.
    Nat Genet; 1996 Nov 06; 14(3):361-5. PubMed ID: 8896573
    [Abstract] [Full Text] [Related]

  • 6. What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?
    Liss DB, Paden MS, Schwarz ES, Mullins ME.
    Clin Toxicol (Phila); 2013 Nov 06; 51(9):817-27. PubMed ID: 24111553
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
    Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M.
    Clin Genet; 1999 Jun 13; 55(6):444-9. PubMed ID: 10450861
    [Abstract] [Full Text] [Related]

  • 9. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
    Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD.
    Mol Genet Metab; 2016 Sep 13; 119(1-2):44-9. PubMed ID: 27477828
    [Abstract] [Full Text] [Related]

  • 10. Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
    Gündüz M, Ünal Ö, Kavurt S, Türk E, Mungan NÖ.
    J Pediatr Endocrinol Metab; 2016 Apr 13; 29(4):481-5. PubMed ID: 26669244
    [Abstract] [Full Text] [Related]

  • 11. 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 13; 91(2):237-41. PubMed ID: 874680
    [Abstract] [Full Text] [Related]

  • 12. 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 13; 40(1):e45-e49. PubMed ID: 28267090
    [Abstract] [Full Text] [Related]

  • 13. 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 13; 61(6):1417-20. PubMed ID: 659603
    [Abstract] [Full Text] [Related]

  • 14. 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 13; 6(7):1147-52. PubMed ID: 9215686
    [Abstract] [Full Text] [Related]

  • 15. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
    Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Yang Y.
    Brain Dev; 2015 Nov 13; 37(10):952-9. PubMed ID: 25851806
    [Abstract] [Full Text] [Related]

  • 16. 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
    Mayatepek E.
    Eur J Pediatr; 1999 Mar 13; 158(3):221-5. PubMed ID: 10094443
    [Abstract] [Full Text] [Related]

  • 17. A rare cause of high anion gap metabolic acidosis.
    Milosevic S, Tran K, O'Brien B.
    Intern Med J; 2013 Jan 13; 43(1):100-1. PubMed ID: 23324093
    [No Abstract] [Full Text] [Related]

  • 18. Metabolic acidosis and 5-oxoprolinuria induced by flucloxacillin and acetaminophen: a case report.
    Lanoy C, Bouckaert Y.
    J Med Case Rep; 2016 Jun 23; 10(1):184. PubMed ID: 27339215
    [Abstract] [Full Text] [Related]

  • 19. Patients with genetic defects in the gamma-glutamyl cycle.
    Ristoff E, Larsson A.
    Chem Biol Interact; 1998 Apr 24; 111-112():113-21. PubMed ID: 9679548
    [Abstract] [Full Text] [Related]

  • 20. Pyroglutamic acidemia in an adult patient.
    Creer MH, Lau BW, Jones JD, Chan KM.
    Clin Chem; 1989 Apr 24; 35(4):684-6. PubMed ID: 2702756
    [Abstract] [Full Text] [Related]

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