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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

112 related items for PubMed ID: 8301428

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. 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; 119(1-2):44-9. PubMed ID: 27477828
    [Abstract] [Full Text] [Related]

  • 5. Approaches to the treatment of inborn errors of sulphur amino acid and peptide metabolism.
    Schulman JD.
    Prog Clin Biol Res; 1979 Sep; 34():201-15. PubMed ID: 531052
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
    Mayatepek E.
    Eur J Pediatr; 1999 Mar; 158(3):221-5. PubMed ID: 10094443
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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; 37(10):952-9. PubMed ID: 25851806
    [Abstract] [Full Text] [Related]

  • 12. Vitamin C augments lymphocyte glutathione in subjects with ascorbate deficiency.
    Lenton KJ, Sané AT, Therriault H, Cantin AM, Payette H, Wagner JR.
    Am J Clin Nutr; 2003 Jan; 77(1):189-95. PubMed ID: 12499341
    [Abstract] [Full Text] [Related]

  • 13. Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
    Mårtensson J, Kågedal B, Larsson A.
    Eur J Clin Invest; 1985 Dec; 15(6):371-4. PubMed ID: 3938407
    [Abstract] [Full Text] [Related]

  • 14. Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency.
    Spielberg SP.
    Can J Physiol Pharmacol; 1985 May; 63(5):468-71. PubMed ID: 4041989
    [Abstract] [Full Text] [Related]

  • 15. Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
    Sykut-Cegielska J, Jurecka A, Taybert J, Gradowska W, Pajdowska M, Pronicka E.
    J Inherit Metab Dis; 2005 May; 28(6):1153-4. PubMed ID: 16435214
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 15; 77(1):38-41. PubMed ID: 3944259
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 55(6):444-9. PubMed ID: 10450861
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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 Jun 15; 27(2):297-9. PubMed ID: 15243994
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.