BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

35 related articles for article (PubMed ID: 8803782)

  • 1. New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
    Calpena E; Deshpande AA; Yap S; Kumar A; Manning NJ; Bachhawat AK; Espinós C
    Eur J Pediatr; 2015 Mar; 174(3):407-11. PubMed ID: 25129617
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
    Calpena E; Casado M; Martínez-Rubio D; Nascimento A; Colomer J; Gargallo E; García-Cazorla A; Palau F; Artuch R; Espinós C
    JIMD Rep; 2013; 7():123-8. PubMed ID: 23430506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Inborn errors in the metabolism of glutathione.
    Ristoff E; Larsson A
    Orphanet J Rare Dis; 2007 Mar; 2():16. PubMed ID: 17397529
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.
    Bernier FP; Snyder FF; McLeod DR
    J Inherit Metab Dis; 1996; 19(3):367-8. PubMed ID: 8803782
    [No Abstract]   [Full Text] [Related]  

  • 6. Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.
    Cohen LH; Vamos E; Heinrichs C; Toppet M; Courtens W; Kumps A; Mardens Y; Carlsson B; Grillner L; Larsson A
    Eur J Pediatr; 1997 Dec; 156(12):935-8. PubMed ID: 9453376
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; 82(2):193-6. PubMed ID: 21651516
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
    Mayatepek E; Hoffmann GF; Larsson A; Becker K; Bremer HJ
    J Inherit Metab Dis; 1995; 18(1):83-4. PubMed ID: 7542714
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

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

  • 14.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 15.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 16.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 2.