Deegan P - Search Results

1

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: deegan p. Clin Genet. 2010 Feb;77(2):131-40. doi: 10.1111/j.1399-0004.2009.01345.x. Clin Genet. 2010. PMID: 20096069

2

Natural history of Fabry disease in females in the Fabry Outcome Survey.

Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Deegan PB, et al. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227523 Free PMC article.

3

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH. Cole AL, et al. Among authors: deegan pb. J Inherit Metab Dis. 2007 Nov;30(6):943-51. doi: 10.1007/s10545-007-0708-6. Epub 2007 Nov 12. J Inherit Metab Dis. 2007. PMID: 17994284

4

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

5

Age adjusting severity scores for Anderson-Fabry disease.

Hughes DA, Ramaswami U, Barba Romero MÁ, Deegan P; FOS Investigators. Hughes DA, et al. Among authors: deegan p. Mol Genet Metab. 2010 Oct-Nov;101(2-3):219-27. doi: 10.1016/j.ymgme.2010.06.002. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20691627

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

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

8

Novel pathogenic mutations in the glucocerebrosidase locus.

Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J. Duran R, et al. Among authors: deegan p. Mol Genet Metab. 2012 Aug;106(4):495-7. doi: 10.1016/j.ymgme.2012.05.006. Epub 2012 May 18. Mol Genet Metab. 2012. PMID: 22658918 Free PMC article.

9

A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.

Hughes DA, Deegan PB, Milligan A, Wright N, Butler LH, Jacobs A, Mehta AB. Hughes DA, et al. Among authors: deegan pb. Mol Genet Metab. 2013 Jul;109(3):269-75. doi: 10.1016/j.ymgme.2013.04.015. Epub 2013 Apr 28. Mol Genet Metab. 2013. PMID: 23702393 Clinical Trial.

10

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Biegstraaten M, et al. Among authors: deegan pb. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. Orphanet J Rare Dis. 2015. PMID: 25885911 Free PMC article.

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