Derralynn A Hughes
Affiliation: University College London
- 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 studiesDominique P Germain
Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
Orphanet J Rare Dis 7:91. 2012..We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day...
- 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 diseaseD A Hughes
Department of Haematology, Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK
Mol Genet Metab 109:269-75. 2013....
- Haematological manifestations and complications of Gaucher diseaseDerralynn A Hughes
Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital and University College Medical School, London, UK
Curr Opin Hematol 20:41-7. 2013..The clinical presentation is very variable and little has been understood of the determinants of heterogeneity or biological features that influence disease severity...
- Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry diseaseDerralynn A Hughes
Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Campus, University College London, London, UK
J Med Genet 49:212-20. 2012..The authors of this study used clinical and pathological data recorded on 1483 patients in the Fabry Outcome Survey, a large international registry, to develop a prognostic severity score...
- The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approachesDerralynn A Hughes
Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK
Wien Med Wochenschr 160:594-9. 2010....
- Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome SurveyDerralynn A Hughes
Department of Haematology, Royal Free Campus, University College London, London, UK
Mol Genet Metab 103:207-14. 2011..Overall, both sexes responded to agalsidase alfa in a similar way, suggesting there should be no difference in the criteria for assessment of treatment in women and men...
- Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease surveyPerry Elliott
he Heart Hospital, University College London, London, UK
Heart 97:1957-60. 2011..The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening...
- Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patientsJames Donaldson
Department of Trauma and Orthopaedics, Royal Free Hospital, London, UK
Hip Int 21:665-71. 2011..6 years following THR) and we believe the use of ERT, at any time in the treatment, could have contributed to the improved survival seen in our series compared to historical results in the literature...
- Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T)Hatim Y Ebrahim
Department of Haematology, Royal Free Campus, University College London Medical School, Rowland Hill Street, London, NW3 2PF, UK
J Inherit Metab Dis 35:325-34. 2012..N215S and p.Q279E α-Gal A respectively) in the over-expression system...
- Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry diseaseJaymin S Shah
The Heart Hospital, University College London, London, United Kingdom
Am J Cardiol 96:842-6. 2005..In conclusion, arrhythmias are common in older patients with AFD. The high incidence of pacemaker implantation and sudden cardiac death suggests that arrhythmia has a significant impact on the natural history of AFD...
- Early therapeutic intervention in females with Fabry disease?Derralynn A Hughes
Lysosomal Storage Disorders Unit, Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, UK
Acta Paediatr Suppl 97:41-7. 2008..Benefits include a reduction in left ventricular mass, stabilization of renal function and improvements in pain and quality of life...
- The use of scoring systems in patients with haematological malignancyDerralynn A Hughes
Lysosomal Storage Disorders Unit, Department of Academic Haematology, The Royal Free Hospital and University College Medical School, London, UK
Acta Paediatr Suppl 95:47-51. 2006..Optimal utility should be provided by a few variables which are independent, highly predictive and easy to obtain. Other considerations include economic evaluation and adaptation for population changes over time...