Ristoff E - Search Results

1

Glutathione synthetase deficiency associated with antenatal cerebral bleeding.

Brüggemann LW, Groenendaal F, Ristoff E, Larsson A, Duran M, van Lier JA, Dorland L, Berger R, de Koning TJ. Brüggemann LW, et al. Among authors: ristoff e. J Inherit Metab Dis. 2004;27(2):275-6. doi: 10.1023/b:boli.0000028844.84760.a1. J Inherit Metab Dis. 2004. PMID: 15243982

2

Generalized glutathione synthetase deficiency and pregnancy.

Ristoff E, Augustson C, Larsson A. Ristoff E, et al. J Inherit Metab Dis. 1999 Aug;22(6):758-9. doi: 10.1023/a:1005564705898. J Inherit Metab Dis. 1999. PMID: 10472538 No abstract available.

3

Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiency.

Ristoff E, Larsson A. Ristoff E, et al. J Inherit Metab Dis. 2002 May;25(3):223-6. doi: 10.1023/a:1015634032042. J Inherit Metab Dis. 2002. PMID: 12137231 Review.

4

Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.

Ristoff E, Burstedt M, Larsson A, Wachtmeister L. Ristoff E, et al. J Inherit Metab Dis. 2007 Feb;30(1):102. doi: 10.1007/s10545-006-0412-y. Epub 2007 Jan 5. J Inherit Metab Dis. 2007. PMID: 17206463

5

Inborn errors in the metabolism of glutathione.

Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.

6

Long-term clinical outcome in patients with glutathione synthetase deficiency.

Ristoff E, Mayatepek E, Larsson A. Ristoff E, et al. J Pediatr. 2001 Jul;139(1):79-84. doi: 10.1067/mpd.2001.114480. J Pediatr. 2001. PMID: 11445798

7

Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

Ristoff E, Hebert C, Njålsson R, Norgren S, Rooyackers O, Larsson A. Ristoff E, et al. J Inherit Metab Dis. 2002 Nov;25(7):577-84. doi: 10.1023/a:1022095324407. J Inherit Metab Dis. 2002. PMID: 12638941

8

Patients with genetic defects in the gamma-glutamyl cycle.

Ristoff E, Larsson A. Ristoff E, et al. Chem Biol Interact. 1998 Apr 24;111-112:113-21. doi: 10.1016/s0009-2797(97)00155-5. Chem Biol Interact. 1998. PMID: 9679548 Review.

9

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.

Riudor E, Arranz JA, Alvarez R, Carlsson K, del Toro M, Salmerón F, Piñol F, Ristoff E, Sentis M, Larsson A. Riudor E, et al. Among authors: ristoff e. J Inherit Metab Dis. 2001 Jun;24(3):404-6. doi: 10.1023/a:1010569021839. J Inherit Metab Dis. 2001. PMID: 11486906 No abstract available.

10

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.

Burstedt MS, Ristoff E, Larsson A, Wachtmeister L. Burstedt MS, et al. Among authors: ristoff e. Ophthalmology. 2009 Feb;116(2):324-31. doi: 10.1016/j.ophtha.2008.09.007. Epub 2008 Dec 27. Ophthalmology. 2009. PMID: 19111905

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