322 related articles for article (PubMed ID: 15074378)
1. 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]
2. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Ben Ameur S; Aloulou H; Nasrallah F; Kamoun T; Kaabachi N; Hachicha M
Fetal Pediatr Pathol; 2015 Feb; 34(1):18-20. PubMed ID: 25166299
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)].
Boivin P; Galand C; Schaison G
Nouv Presse Med; 1978 May; 7(18):1531-5. PubMed ID: 673703
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?
Liss DB; Paden MS; Schwarz ES; Mullins ME
Clin Toxicol (Phila); 2013 Nov; 51(9):817-27. PubMed ID: 24111553
[TBL] [Abstract][Full Text] [Related]
7. Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.
Ekuni S; Hirayama K; Nagasaka M; Osumi K; Kondo H; Nakahara E; Shimojima Yamamoto K; Kanno H; Katayama Y
Am J Case Rep; 2023 Apr; 24():e938396. PubMed ID: 37050856
[TBL] [Abstract][Full Text] [Related]
8. Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
Al-Jishi E; Meyer BF; Rashed MS; Al-Essa M; Al-Hamed MH; Sakati N; Sanjad S; Ozand PT; Kambouris M
Clin Genet; 1999 Jun; 55(6):444-9. PubMed ID: 10450861
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Gündüz M; Ünal Ö; Kavurt S; Türk E; Mungan NÖ
J Pediatr Endocrinol Metab; 2016 Apr; 29(4):481-5. PubMed ID: 26669244
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P; Mutlu FT; Kiraz A; Tag Balkis Z; Yel S
J Pediatr Hematol Oncol; 2018 Jan; 40(1):e45-e49. PubMed ID: 28267090
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Metabolic acidosis and 5-oxoprolinuria induced by flucloxacillin and acetaminophen: a case report.
Lanoy C; Bouckaert Y
J Med Case Rep; 2016 Jun; 10(1):184. PubMed ID: 27339215
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Pyroglutamic acidemia in an adult patient.
Creer MH; Lau BW; Jones JD; Chan KM
Clin Chem; 1989 Apr; 35(4):684-6. PubMed ID: 2702756
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
