Gal A - Search Results

1

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N. Meyer A, et al. Among authors: gal a. Pediatrics. 2007 Nov;120(5):e1255-61. doi: 10.1542/peds.2007-0282. Epub 2007 Oct 15. Pediatrics. 2007. PMID: 17938166

2

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N. Meyer A, et al. Among authors: gal a. Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738. Hum Mutat. 2008. PMID: 18407553

3

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Muschol N, et al. Among authors: gal a. Am J Med Genet A. 2011 Jul;155A(7):1634-9. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671382

4

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Muschol N, et al. Among authors: gal a. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Hum Mutat. 2004. PMID: 15146460

5

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp HJ. Hartwig C, et al. Among authors: gal a. FEBS Lett. 2006 Jun 12;580(14):3489-92. doi: 10.1016/j.febslet.2006.05.026. Epub 2006 May 15. FEBS Lett. 2006. PMID: 16716305 Free article.

6

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mutat. 1997;10(6):479-85. doi: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9401012

7

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A. Bunge S, et al. Among authors: gal a. J Med Genet. 1999 Jan;36(1):28-31. J Med Genet. 1999. PMID: 9950362 Free PMC article.

8

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Schaefer E, Mehta A, Gal A. Schaefer E, et al. Among authors: gal a. Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79. doi: 10.1111/j.1651-2227.2005.tb02119.x. Acta Paediatr Suppl. 2005. PMID: 15895718 Review.

9

Mucopolysaccharidosis type II in females: case report and review of literature.

Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Tuschl K, et al. Among authors: gal a. Pediatr Neurol. 2005 Apr;32(4):270-2. doi: 10.1016/j.pediatrneurol.2004.10.009. Pediatr Neurol. 2005. PMID: 15797184 Review.

10

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A. Bunge S, et al. Among authors: gal a. Hum Mutat. 1997;10(3):223-32. doi: 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J. Hum Mutat. 1997. PMID: 9298823

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

885 results

Search Page

Filters