Hughes D - Search Results

1

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T. Duran R, et al. Among authors: hughes d. Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5. Mov Disord. 2013. PMID: 23225227 Free PMC article.

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

The role of heparin in alleviating complement-mediated acute intravascular haemolysis.

Mannari D, Liu C, Hughes D, Mehta A. Mannari D, et al. Among authors: hughes d. Acta Haematol. 2008;119(3):166-8. doi: 10.1159/000134221. Epub 2008 May 21. Acta Haematol. 2008. PMID: 18493118

4

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.

Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A, Zimran A. Hollak CE, et al. Among authors: hughes d. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):86-7. doi: 10.1016/j.bcmd.2009.12.002. Blood Cells Mol Dis. 2010. PMID: 20022271 No abstract available.

5

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. Among authors: hughes d. Clin Genet. 2010 Feb;77(2):131-40. doi: 10.1111/j.1399-0004.2009.01345.x. Clin Genet. 2010. PMID: 20096069

6

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy.

Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P, Mehta A, Hughes D, Wraith JE, Cox TM. Deegan PB, et al. Among authors: hughes d. Medicine (Baltimore). 2011 Jan;90(1):52-60. doi: 10.1097/MD.0b013e3182057be4. Medicine (Baltimore). 2011. PMID: 21200186 Free article.

7

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.

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. 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. 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

Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients.

Donaldson J, Khan WS, Tailor H, Hughes DA, Mehta AB, Maruthainar N. Donaldson J, et al. Hip Int. 2011 Nov-Dec;21(6):665-71. doi: 10.5301/HIP.2011.8826. Hip Int. 2011. PMID: 22101622

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