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Journal Abstract Search

176 related items for PubMed ID: 6113726

  • 1. 5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.
    Larsson A, Mattsson B, Wauters EA, van Gool JD, Duran M, Wadman SK.
    Acta Paediatr Scand; 1981; 70(3):301-8. PubMed ID: 6113726
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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 9. Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.
    Roesel RA, Hommes FA, Samper L.
    J Inherit Metab Dis; 1981 Apr 24; 4(2):89-90. PubMed ID: 6790862
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  • 13. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
    Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS.
    Clin Genet; 2012 Aug 24; 82(2):193-6. PubMed ID: 21651516
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  • 19. Physiological and pathological aspects of GSH metabolism.
    Njålsson R, Norgren S.
    Acta Paediatr; 2005 Feb 24; 94(2):132-7. PubMed ID: 15981742
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  • 20. A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
    Kumar A, Bachhawat AK.
    J Biosci; 2010 Mar 24; 35(1):21-5. PubMed ID: 20413906
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