Gal A - Search Results

1

Clinical utility gene card for: Fabry disease - update 2016.

Gal A, Beck M, Höppner W, Germain DP. Gal A, et al. Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327573 Free PMC article. No abstract available.

2

Clinical utility gene card for: mucopolysaccharidosis type II.

Beck M, Wijburg FA, Gal A. Beck M, et al. Among authors: gal a. Eur J Hum Genet. 2012 Jan;20(1). doi: 10.1038/ejhg.2011.143. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863056 Free PMC article. No abstract available.

3

Clinical utility gene card for: Fabry disease.

Gal A, Beck M, Winchester B. Gal A, et al. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.178. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934708 Free PMC article. No abstract available.

4

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A. Schäfer E, et al. Among authors: gal a. Hum Mutat. 2005 Apr;25(4):412. doi: 10.1002/humu.9327. Hum Mutat. 2005. PMID: 15776423

5

Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, Whybra C, Gal A, Bultas J, Beck M. Kampmann C, et al. Among authors: gal a. Int J Cardiol. 2008 Nov 28;130(3):367-73. doi: 10.1016/j.ijcard.2008.03.007. Epub 2008 Jun 24. Int J Cardiol. 2008. PMID: 18572264

6

Ocular signs correlate well with disease severity and genotype in Fabry disease.

Pitz S, Kalkum G, Arash L, Karabul N, Sodi A, Larroque S, Beck M, Gal A. Pitz S, et al. Among authors: gal a. PLoS One. 2015 Mar 17;10(3):e0120814. doi: 10.1371/journal.pone.0120814. eCollection 2015. PLoS One. 2015. PMID: 25781336 Free PMC article.

7

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, Gal A, Beck M. Ries M, et al. Among authors: gal a. Eur J Pediatr. 2003 Nov;162(11):767-72. doi: 10.1007/s00431-003-1299-3. Epub 2003 Sep 20. Eur J Pediatr. 2003. PMID: 14505049

8

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M. Whybra C, et al. Among authors: gal a. Clin Genet. 2004 Apr;65(4):299-307. doi: 10.1111/j.1399-0004.2004.00219.x. Clin Genet. 2004. PMID: 15025723

9

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.

Rohard I, Schaefer E, Kampmann C, Beck M, Gal A. Rohard I, et al. Among authors: gal a. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S349-56. doi: 10.1007/s10545-008-0920-z. Epub 2008 Oct 22. J Inherit Metab Dis. 2008. PMID: 18941922

10

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC. Maier EM, et al. Among authors: gal a. Acta Paediatr Suppl. 2006 Apr;95(451):30-8. doi: 10.1080/08035320600618809. Acta Paediatr Suppl. 2006. PMID: 16720462

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

884 results

Search Page

Filters