BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 8504546)

  • 1. Asymptomatic 5-oxoprolinuria detected by proton magnetic resonance spectroscopy.
    Ghauri FY; Parkes HG; Nicholson JK; Wilson ID; Brenton DP
    Clin Chem; 1993 Jun; 39(6):1341. PubMed ID: 8504546
    [No Abstract]   [Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 4(2):89-90. PubMed ID: 6790862
    [No Abstract]   [Full Text] [Related]  

  • 4. Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.
    Ruijter GJ; Mourad-Baars PE; Ristoff E; Onkenhout W; Poorthuis BJ
    J Inherit Metab Dis; 2006 Aug; 29(4):587. PubMed ID: 16830260
    [TBL] [Abstract][Full Text] [Related]  

  • 5. High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies.
    Wevers RA; Engelke U; Heerschap A
    Clin Chem; 1994 Jul; 40(7 Pt 1):1245-50. PubMed ID: 8013094
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.
    Henderson MJ; Larsson A; Carlsson B; Dear PR
    J Inherit Metab Dis; 1993; 16(6):1051-2. PubMed ID: 8127060
    [No Abstract]   [Full Text] [Related]  

  • 7. Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.
    Riudor E; Arranz JA; Alvarez R; Carlsson K; del Toro M; Salmerón F; Piñol F; Ristoff E; Sentis M; Larsson A
    J Inherit Metab Dis; 2001 Jun; 24(3):404-6. PubMed ID: 11486906
    [No Abstract]   [Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 5-Oxoprolinuria due to glutathione synthetase deficiency.
    Pejaver RK; Watson AH
    J Inherit Metab Dis; 1992; 15(6):937-8. PubMed ID: 1293394
    [No Abstract]   [Full Text] [Related]  

  • 11. 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.
    Divry P; Roulaud-Parrot F; Dorche C; Zabot MT; Contraire B; Hagenfeldt L; Larsson A
    J Inherit Metab Dis; 1991; 14(3):341-4. PubMed ID: 1770788
    [No Abstract]   [Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis.
    Robertson PL; Buchanan DN; Muenzer J
    J Pediatr; 1991 Jan; 118(1):92-5. PubMed ID: 1986110
    [No Abstract]   [Full Text] [Related]  

  • 14. 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; 299(11):587-90. PubMed ID: 28482
    [No Abstract]   [Full Text] [Related]  

  • 15. 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; 91(2):237-41. PubMed ID: 874680
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [5-Oxoprolinase deficiency].
    Kanno H
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):366-7. PubMed ID: 9590071
    [No Abstract]   [Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 5-L-oxoprolinuria and glycine sufficiency.
    Persaud C; Jackson AA
    Clin Chem; 1991 Sep; 37(9):1660-1. PubMed ID: 1680036
    [No Abstract]   [Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.