PMC Articles for MedGen (Select 343541) - PMC

Select item 111391231.

R. Njålsson

Cell Mol Life Sci. 2005 Sep; 62(17): 1938–1945. Published online 2005 Jun 30. doi: 10.1007/s00018-005-5163-7

PMCID:: PMC11139123

Select item 101069692.

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama

Am J Case Rep. 2023; 24: e938396-1–e938396-6. Published online 2023 Apr 13. doi: 10.12659/AJCR.938396

PMCID:: PMC10106969

Abstract Article PDF–817K

Select item 57697573.

A case of severe glutathione synthetase deficiency with novel GSS mutations

H. Xia, J. Ye, L. Wang, J. Zhu, Z. He

Braz J Med Biol Res. 2018; 51(3): e6853. Published online 2018 Jan 11. doi: 10.1590/1414-431X20176853

PMCID:: PMC5769757

Abstract Article PDF–734K

Select item 49615644.

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

Paldeep S. Atwal, Casey R. Medina, Lindsay C. Burrage, V. Reid Sutton

J Hum Genet. Author manuscript; available in PMC 2016 Sep 17.

Published in final edited form as: J Hum Genet. 2016 Jul; 61(7): 669–672. Published online 2016 Mar 17. doi: 10.1038/jhg.2016.20

PMCID:: PMC4961564

Abstract Article PDF–504K

Select item 18520945.

Inborn errors in the metabolism of glutathione

Ellinor Ristoff, Agne Larsson

Orphanet J Rare Dis. 2007; 2: 16. Published online 2007 Mar 30. doi: 10.1186/1750-1172-2-16

PMCID:: PMC1852094

Abstract Article PDF–545K

Select item 11714016.

Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.

G Polekhina, P G Board, R R Gali, J Rossjohn, M W Parker

EMBO J. 1999 Jun 15; 18(12): 3204–3213. doi: 10.1093/emboj/18.12.3204

PMCID:: PMC1171401

Summary PDF–442K

Select item 4233057.

Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.

E Beutler, T Gelbart, C Pegelow

J Clin Invest. 1986 Jan; 77(1): 38–41. doi: 10.1172/JCI112298

PMCID:: PMC423305

Summary Page Browse PDF–663K

Select item 3726668.

Biochemical heterogeneity in glutathione synthetase deficiency.

S P Spielberg, M D Garrick, L M Corash, J D Butler, F Tietze, L Rogers, J D Schulman

J Clin Invest. 1978 Jun; 61(6): 1417–1420. doi: 10.1172/JCI109060

PMCID:: PMC372666

Summary Page Browse PDF–702K

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