Hughes DA - Search Results

1

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF. Germain DP, et al. Among authors: hughes da. Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91. Orphanet J Rare Dis. 2012. PMID: 23176611 Free PMC article. Clinical Trial.

2

Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease.

Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, Mehta AB, Elliott PM. Shah JS, et al. Among authors: hughes da. Am J Cardiol. 2005 Sep 15;96(6):842-6. doi: 10.1016/j.amjcard.2005.05.033. Am J Cardiol. 2005. PMID: 16169374

3

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

Brouns R, Sheorajpanday R, Braxel E, Eyskens F, Baker R, Hughes D, Mehta A, Timmerman T, Vincent MF, De Deyn PP. Brouns R, et al. Clin Neurol Neurosurg. 2007 Jul;109(6):479-84. doi: 10.1016/j.clineuro.2007.03.008. Epub 2007 May 16. Clin Neurol Neurosurg. 2007. PMID: 17509753

4

Does geographical location influence the phenotype of Fabry disease in women in Europe?

Barba-Romero MA, Deegan P, Giugliani R, Hughes D. Barba-Romero MA, et al. Clin Genet. 2010 Feb;77(2):131-40. doi: 10.1111/j.1399-0004.2009.01345.x. Clin Genet. 2010. PMID: 20096069

5

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

Linthorst GE, Germain DP, Hollak CE, Hughes D, Rolfs A, Wanner C, Mehta A; European Medicines Agency. Linthorst GE, et al. Mol Genet Metab. 2011 Jan;102(1):99-102. doi: 10.1016/j.ymgme.2010.11.155. Epub 2010 Nov 30. Mol Genet Metab. 2011. PMID: 21123099

6

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.

Hughes DA, Barba Romero MÁ, Hollak CE, Giugliani R, Deegan PB. Hughes DA, et al. Mol Genet Metab. 2011 Jul;103(3):207-14. doi: 10.1016/j.ymgme.2011.03.022. Epub 2011 Mar 31. Mol Genet Metab. 2011. PMID: 21543245 Clinical Trial.

7

Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease.

Calcagnino M, O'Mahony C, Coats C, Cardona M, Garcia A, Janagarajan K, Mehta A, Hughes D, Murphy E, Lachmann R, Elliott PM. Calcagnino M, et al. J Am Coll Cardiol. 2011 Jun 28;58(1):88-9. doi: 10.1016/j.jacc.2011.03.020. J Am Coll Cardiol. 2011. PMID: 21700093 Free article. No abstract available.

8

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.

Elliott P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB, Hughes DA; ACES study group. Elliott P, et al. Among authors: hughes da. Heart. 2011 Dec;97(23):1957-60. doi: 10.1136/heartjnl-2011-300364. Epub 2011 Sep 2. Heart. 2011. PMID: 21890869

9

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

Ebrahim HY, Baker RJ, Mehta AB, Hughes DA. Ebrahim HY, et al. Among authors: hughes da. J Inherit Metab Dis. 2012 Mar;35(2):325-34. doi: 10.1007/s10545-011-9395-4. Epub 2011 Oct 5. J Inherit Metab Dis. 2012. PMID: 21972175

10

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER. Young-Gqamana B, et al. Among authors: hughes da. PLoS One. 2013;8(3):e57631. doi: 10.1371/journal.pone.0057631. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472096 Free PMC article.

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