Hughes D - Search Results

1

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators; Yang K, Mealiffe M, Haller C. Hendriksz CJ, et al. Among authors: hughes d. Mol Genet Metab. 2015 Feb;114(2):178-85. doi: 10.1016/j.ymgme.2014.08.012. Epub 2014 Sep 6. Mol Genet Metab. 2015. PMID: 25284089 Free article. Clinical Trial.

2

To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.

Pastores GM, Hughes DA. Pastores GM, et al. Kidney Int. 2009 Feb;75(4):351-3. doi: 10.1038/ki.2008.606. Kidney Int. 2009. PMID: 19180148 Free article.

3

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

4

Editorial overview: lysosomal storage disorders with primary neurological involvement.

Pastores GM, Hughes DA. Pastores GM, et al. J Inherit Metab Dis. 2010 Aug;33(4):311-2. doi: 10.1007/s10545-010-9147-x. J Inherit Metab Dis. 2010. PMID: 20549360 No abstract available.

5

The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.

Hughes DA, Pastores GM. Hughes DA, et al. Wien Med Wochenschr. 2010 Dec;160(23-24):594-9. doi: 10.1007/s10354-010-0864-4. Wien Med Wochenschr. 2010. PMID: 21221911 Review.

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

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease.

Torralba-Cabeza MÁ, Olivera S, Hughes DA, Pastores GM, Mateo RN, Pérez-Calvo JI. Torralba-Cabeza MÁ, et al. Mol Genet Metab. 2011 Nov;104(3):301-7. doi: 10.1016/j.ymgme.2011.06.021. Epub 2011 Jul 1. Mol Genet Metab. 2011. PMID: 21795086

8

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease.

Hughes DA, Malmenäs M, Deegan PB, Elliott PM, Ginsberg L, Hajioff D, Ioannidis AS, Orteu CH, Ramaswami U, West M, Pastores GM, Jenkinson C; FOS Investigators. Hughes DA, et al. J Med Genet. 2012 Mar;49(3):212-20. doi: 10.1136/jmedgenet-2011-100407. Epub 2012 Feb 7. J Med Genet. 2012. PMID: 22315436

9

Haematological manifestations and complications of Gaucher disease.

Hughes DA, Pastores GM. Hughes DA, et al. Curr Opin Hematol. 2013 Jan;20(1):41-7. doi: 10.1097/MOH.0b013e32835a9148. Curr Opin Hematol. 2013. PMID: 23108221 Review.

10

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Zimran A, et al. Among authors: hughes da. Am J Hematol. 2013 Mar;88(3):172-8. doi: 10.1002/ajh.23383. Epub 2013 Jan 22. Am J Hematol. 2013. PMID: 23339116 Free PMC article. Clinical Trial.

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