150 related articles for article (PubMed ID: 37050856)
1. 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]
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 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]
4. 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]
5. 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]
6. Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Guney Varal I; Dogan P; Gorukmez O; Dorum S; Akdag A
Fetal Pediatr Pathol; 2020 Feb; 39(1):38-44. PubMed ID: 31198081
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Prchal JT; Crist WM; Roper M; Wellner VP
Blood; 1983 Oct; 62(4):754-7. PubMed ID: 6882923
[TBL] [Abstract][Full Text] [Related]
10. Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.
Kaur P; Chaudhry C; Panigrahi I; Srivastava P; Kaur A
Lab Med; 2022 May; 53(3):e59-e61. PubMed ID: 34791353
[TBL] [Abstract][Full Text] [Related]
11. Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Signolet I; Chenouard R; Oca F; Barth M; Reynier P; Denis MC; Simard G
Pediatrics; 2016 Sep; 138(3):. PubMed ID: 27581854
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Atwal PS; Medina CR; Burrage LC; Sutton VR
J Hum Genet; 2016 Jul; 61(7):669-72. PubMed ID: 26984560
[TBL] [Abstract][Full Text] [Related]
14. Neonatal 5-oxoprolinuria: difficult-to-diagnose?
Mendelson IS; Christie E; Zaleski WA; MacKenzie SL; Wellner VP; Meister A
J Inherit Metab Dis; 1983; 6(1):44-8. PubMed ID: 6408309
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X; Jiao J; Xia Y; Yan X; Liu Z; Cao Y; Ma L
Front Pediatr; 2023; 11():1212405. PubMed ID: 37576147
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Long-term clinical outcome in patients with glutathione synthetase deficiency.
Ristoff E; Mayatepek E; Larsson A
J Pediatr; 2001 Jul; 139(1):79-84. PubMed ID: 11445798
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Diagnosis of glutathione synthetase deficiency in newborn screening.
Simon E; Vogel M; Fingerhut R; Ristoff E; Mayatepek E; Spiekerkötter U
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S269-72. PubMed ID: 19728142
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
