BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 9453376)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. [5-Oxoprolinase deficiency].
    Kanno H
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):366-7. PubMed ID: 9590071
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Physiological and pathological aspects of GSH metabolism.
    Njålsson R; Norgren S
    Acta Paediatr; 2005 Feb; 94(2):132-7. PubMed ID: 15981742
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Molecular heterogeneity of congenital forms of insulin resistance].
    van der Vorm ER; Lindhout D; Wit JM; Odink RJ; Krans HM; Maassen JA
    Ned Tijdschr Geneeskd; 1991 Jun; 135(26):1165-70. PubMed ID: 1650430
    [No Abstract]   [Full Text] [Related]  

  • 16. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.
    Hobson EE; Thomas S; Crofton PM; Murray AD; Dean JC; Lloyd D
    Eur J Pediatr; 2005 Nov; 164(11):655-9. PubMed ID: 16025295
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.
    Al-Batniji FS; Mahmoud MA; Van Dijken PJ; Al-Asiri RH; Al-Swaid AF; Al-Marshedy AM
    Saudi Med J; 2001 Dec; 22(12):1122-6. PubMed ID: 11802189
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.
    Mancini J; Philip N; Chabrol B; Divry P; Rolland MO; Pinsard N
    Pediatr Neurol; 1993; 9(3):243-6. PubMed ID: 8352861
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
    Ünal Ö; Özgül RK; Yücel D; Yalnızoğlu D; Tokatlı A; Sivri HS; Hişmi B; Coşkun T; Dursun A
    Turk J Pediatr; 2015; 57(4):388-393. PubMed ID: 27186703
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
    Capo-Chichi JM; Boissel S; Brustein E; Pickles S; Fallet-Bianco C; Nassif C; Patry L; Dobrzeniecka S; Liao M; Labuda D; Samuels ME; Hamdan FF; Vande Velde C; Rouleau GA; Drapeau P; Michaud JL
    J Med Genet; 2015 May; 52(5):303-11. PubMed ID: 25650066
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.