Larsson A - Search Results

1

A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.

Ristoff E, Augustson C, Geissler J, de Rijk T, Carlsson K, Luo JL, Andersson K, Weening RS, van Zwieten R, Larsson A, Roos D. Ristoff E, et al. Among authors: larsson a. Blood. 2000 Apr 1;95(7):2193-6. Blood. 2000. PMID: 10733484 Free article.

2

Patients with genetic defects in the gamma-glutamyl cycle.

Ristoff E, Larsson A. Ristoff E, et al. Among authors: larsson a. 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.

3

Generalized glutathione synthetase deficiency and pregnancy.

Ristoff E, Augustson C, Larsson A. Ristoff E, et al. Among authors: larsson a. 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.

4

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.

Njålsson R, Carlsson K, Olin B, Carlsson B, Whitbread L, Polekhina G, Parker MW, Norgren S, Mannervik B, Board PG, Larsson A. Njålsson R, et al. Among authors: larsson a. Biochem J. 2000 Jul 1;349(Pt 1):275-9. doi: 10.1042/0264-6021:3490275. Biochem J. 2000. PMID: 10861239 Free PMC article.

5

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

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

6

Cooperative binding of gamma-glutamyl substrate to human glutathione synthetase.

Njalsson R, Norgren S, Larsson A, Huang CS, Anderson ME, Luo JL. Njalsson R, et al. Among authors: larsson a. Biochem Biophys Res Commun. 2001 Nov 23;289(1):80-4. doi: 10.1006/bbrc.2001.5961. Biochem Biophys Res Commun. 2001. PMID: 11708780

7

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

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

8

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. Among authors: larsson a. J Inherit Metab Dis. 2002 Nov;25(7):577-84. doi: 10.1023/a:1022095324407. J Inherit Metab Dis. 2002. PMID: 12638941

9

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

Ristoff E, Burstedt M, Larsson A, Wachtmeister L. Ristoff E, et al. Among authors: larsson a. 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

10

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. Dahl N, et al. Among authors: larsson a. Hum Mol Genet. 1997 Jul;6(7):1147-52. doi: 10.1093/hmg/6.7.1147. Hum Mol Genet. 1997. PMID: 9215686

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