Pastores GM - Search Results

1

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.

Wang ZH, Zeng B, Shibuya H, Johnson GS, Alroy J, Pastores GM, Raghavan S, Kolodny EH. Wang ZH, et al. Among authors: pastores gm. J Inherit Metab Dis. 2000 Sep;23(6):593-606. doi: 10.1023/a:1005630013448. J Inherit Metab Dis. 2000. PMID: 11032334

2

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. J Inherit Metab Dis. 2002 Nov;25(7):557-70. doi: 10.1023/a:1022091223498. J Inherit Metab Dis. 2002. PMID: 12638939

3

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Raghavan S, Zeng B, Torres PA, Pastores GM, Kolodny EH, Kurtzberg J, Krivit W. Raghavan S, et al. Among authors: pastores gm. J Inherit Metab Dis. 2005;28(6):1005-9. doi: 10.1007/s10545-005-4138-z. J Inherit Metab Dis. 2005. PMID: 16435193

4

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. doi: 10.1007/0-387-30172-0_11. Adv Exp Med Biol. 2006. PMID: 16802711 No abstract available.

5

A neurological symptom survey of patients with type I Gaucher disease.

Pastores GM, Barnett NL, Bathan P, Kolodny EH. Pastores GM, et al. J Inherit Metab Dis. 2003;26(7):641-5. doi: 10.1023/b:boli.0000005623.60471.51. J Inherit Metab Dis. 2003. PMID: 14707512

6

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Mol Genet Metab. 2006 Sep-Oct;89(1-2):156-63. doi: 10.1016/j.ymgme.2006.05.014. Epub 2006 Jul 18. Mol Genet Metab. 2006. PMID: 16854607

7

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

Zia A, Kolodny EH, Pastores GM. Zia A, et al. Among authors: pastores gm. J Inherit Metab Dis. 2007 Oct;30(5):817. doi: 10.1007/s10545-007-0582-2. Epub 2007 May 19. J Inherit Metab Dis. 2007. PMID: 17514507

8

Spontaneous appearance of Tay-Sachs disease in an animal model.

Zeng BJ, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH. Zeng BJ, et al. Among authors: pastores gm. Mol Genet Metab. 2008 Sep-Oct;95(1-2):59-65. doi: 10.1016/j.ymgme.2008.06.010. Epub 2008 Aug 9. Mol Genet Metab. 2008. PMID: 18693054

9

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH. Wang ZH, et al. Among authors: pastores gm. Genet Test. 2001 Summer;5(2):87-92. doi: 10.1089/109065701753145529. Genet Test. 2001. PMID: 11551108

10

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, Freese A, Wang DJ, Bilaniuk L, Shera D, Leone P. Janson CG, et al. Ann Neurol. 2006 Feb;59(2):428-31. doi: 10.1002/ana.20787. Ann Neurol. 2006. PMID: 16437572

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