124 related articles for article (PubMed ID: 25129617)
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. 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]
3. 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]
4. 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]
5. 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]
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. 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]
8. 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]
9. [5-Oxoprolinase deficiency].
Kanno H
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):366-7. PubMed ID: 9590071
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. A case of severe glutathione synthetase deficiency with novel GSS mutations.
Xia H; Ye J; Wang L; Zhu J; He Z
Braz J Med Biol Res; 2018 Jan; 51(3):e6853. PubMed ID: 29340523
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Shi ZZ; Habib GM; Rhead WJ; Gahl WA; He X; Sazer S; Lieberman MW
Nat Genet; 1996 Nov; 14(3):361-5. PubMed ID: 8896573
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. OPLAH ablation leads to accumulation of 5-oxoproline, oxidative stress, fibrosis, and elevated fillings pressures: a murine model for heart failure with a preserved ejection fraction.
van der Pol A; Gil A; Tromp J; Silljé HHW; van Veldhuisen DJ; Voors AA; Hoendermis ES; Grote Beverborg N; Schouten EM; de Boer RA; Bischoff R; van der Meer P
Cardiovasc Res; 2018 Dec; 114(14):1871-1882. PubMed ID: 30032247
[TBL] [Abstract][Full Text] [Related]
17. Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N; Pigg M; Ristoff E; Gali R; Carlsson B; Mannervik B; Larsson A; Board P
Hum Mol Genet; 1997 Jul; 6(7):1147-52. PubMed ID: 9215686
[TBL] [Abstract][Full Text] [Related]
18. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
Zhu H; Bao X; Zhang Y
Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
[TBL] [Abstract][Full Text] [Related]
19. 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; 73(1):19-23. PubMed ID: 11905
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
