Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors
Arends, Maarten, Biegstraaten, Marieke, Hughes, Derralynn A, Mehta, Atul, Elliott, Perry M, Oder, Daniel, Watkinson, Oliver T, Vaz, Frédéric M, van Kuilenburg, André B P, Wanner, Christoph, Hollak, Carla E M
Published in PloS one (01.08.2017)
Published in PloS one (01.08.2017)
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Journal Article
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study
Arends, Maarten, Biegstraaten, Marieke, Wanner, Christoph, Sirrs, Sandra, Mehta, Atul, Elliott, Perry M, Oder, Daniel, Watkinson, Oliver T, Bichet, Daniel G, Khan, Aneal, Iwanochko, Mark, Vaz, Frédéric M, van Kuilenburg, André B P, West, Michael L, Hughes, Derralynn A, Hollak, Carla E M
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Journal Article
Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy
Nordin, Sabrina, Kozor, Rebecca, Vijapurapu, Ravi, Augusto, João B, Knott, Kristopher D, Captur, Gabriella, Treibel, Thomas A, Ramaswami, Uma, Tchan, Michel, Geberhiwot, Tarekegn, Steeds, Richard P, Hughes, Derralynn A, Moon, James C
Published in Circulation. Cardiovascular imaging (01.12.2019)
Published in Circulation. Cardiovascular imaging (01.12.2019)
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Journal Article
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
Beck, Michael, Ramaswami, Uma, Hernberg-Ståhl, Elizabeth, Hughes, Derralynn A, Kampmann, Christoph, Mehta, Atul B, Nicholls, Kathleen, Niu, Dau-Ming, Pintos-Morell, Guillem, Reisin, Ricardo, West, Michael L, Schenk, Jörn, Anagnostopoulou, Christina, Botha, Jaco, Giugliani, Roberto
Published in Orphanet journal of rare diseases (20.06.2022)
Published in Orphanet journal of rare diseases (20.06.2022)
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Journal Article
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
Cleeter, Michael W.J., Chau, Kai-Yin, Gluck, Caroline, Mehta, Atul, Hughes, Derralynn A., Duchen, Michael, Wood, Nicholas William, Hardy, John, Mark Cooper, J., Schapira, Anthony Henry
Published in Neurochemistry international (01.01.2013)
Published in Neurochemistry international (01.01.2013)
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Journal Article
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Hughes, Derralynn A, Aguiar, Patrício, Lidove, Olivier, Nicholls, Kathleen, Nowak, Albina, Thomas, Mark, Torra, Roser, Vujkovac, Bojan, West, Michael L, Feriozzi, Sandro
Published in Orphanet journal of rare diseases (08.02.2022)
Published in Orphanet journal of rare diseases (08.02.2022)
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Journal Article
Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy
Vijapurapu, Ravi, Bradlow, William, Leyva, Francisco, Moon, James C, Zegard, Abbasin, Lewis, Nigel, Kotecha, D, Jovanovic, Ana, Hughes, Derralynn A, Woolfson, Peter, Steeds, Richard P, Geberhiwot, Tarekegn
Published in Orphanet journal of rare diseases (06.01.2022)
Published in Orphanet journal of rare diseases (06.01.2022)
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Journal Article
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
Elstein, Deborah, Belmatoug, Nadia, Deegan, Patrick, Göker-Alpan, Özlem, Hughes, Derralynn A, Schwartz, Ida Vanessa D, Weinreb, Neal, Bonner, Nicola, Panter, Charlotte, Fountain, Donna, Lenny, Andrew, Longworth, Louise, Miller, Rachael, Shah, Koonal, Schenk, Jörn, Sen, Rohini, Zimran, Ari
Published in Orphanet journal of rare diseases (06.01.2022)
Published in Orphanet journal of rare diseases (06.01.2022)
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Journal Article
Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease
Donald, Aimee, Cizer, Huseyin, Finnegan, Niamh, Collin-Histed, Tanya, Hughes, Derralynn A, Davies, Elin Haf
Published in Orphanet journal of rare diseases (05.09.2019)
Published in Orphanet journal of rare diseases (05.09.2019)
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Journal Article
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, Dominique P, Giugliani, Roberto, Hughes, Derralynn A, Mehta, Atul, Nicholls, Kathy, Barisoni, Laura, Jennette, Charles J, Bragat, Alexander, Castelli, Jeff, Sitaraman, Sheela, Lockhart, David J, Boudes, Pol F
Published in Orphanet journal of rare diseases (24.11.2012)
Published in Orphanet journal of rare diseases (24.11.2012)
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Journal Article
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158"
Hughes, Derralynn A, Deegan, Patrick, Giraldo, Pilar, Göker-Alpan, Özlem, Lau, Heather, Lukina, Elena, Revel-Vilk, Shoshana, Scarpa, Maurizio, Botha, Jaco, Gadir, Noga, Zimran, Ari
Published in Journal of clinical medicine (13.06.2023)
Published in Journal of clinical medicine (13.06.2023)
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Journal Article
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Hughes, Derralynn A, Aguiar, Patricio, Deegan, Patrick B, Ezgu, Fatih, Frustaci, Andrea, Lidove, Olivier, Linhart, Aleš, Lubanda, Jean-Claude, Moon, James C, Nicholls, Kathleen, Niu, Dau-Ming, Nowak, Albina, Ramaswami, Uma, Reisin, Ricardo, Rozenfeld, Paula, Schiffmann, Raphael, Svarstad, Einar, Thomas, Mark, Torra, Roser, Vujkovac, Bojan, Warnock, David G, West, Michael L, Johnson, Jack, Rolfe, Mark J, Feriozzi, Sandro
Published in BMJ open (10.10.2020)
Published in BMJ open (10.10.2020)
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Journal Article
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Schiffmann, Raphael, Bichet, Daniel G, Jovanovic, Ana, Hughes, Derralynn A, Giugliani, Roberto, Feldt-Rasmussen, Ulla, Shankar, Suma P, Barisoni, Laura, Colvin, Robert B, Jennette, J Charles, Holdbrook, Fred, Mulberg, Andrew, Castelli, Jeffrey P, Skuban, Nina, Barth, Jay A, Nicholls, Kathleen
Published in Orphanet journal of rare diseases (27.04.2018)
Published in Orphanet journal of rare diseases (27.04.2018)
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Journal Article
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
Young-Gqamana, Brandy, Brignol, Nastry, Chang, Hui-Hwa, Khanna, Richie, Soska, Rebecca, Fuller, Maria, Sitaraman, Sheela A, Germain, Dominique P, Giugliani, Roberto, Hughes, Derralynn A, Mehta, Atul, Nicholls, Kathy, Boudes, Pol, Lockhart, David J, Valenzano, Kenneth J, Benjamin, Elfrida R
Published in PloS one (05.03.2013)
Published in PloS one (05.03.2013)
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Journal Article
Systematic review of the incidence and clinical risk predictors of atrial fibrillation and permanent pacemaker implantation for bradycardia in Fabry disease
Vijapurapu, Ravi, Roy, Ashwin, Demetriades, Polyvios, Warfield, Adrian, Hughes, Derralynn A, Moon, James, Woolfson, Peter, de Bono, Joseph, Geberhiwot, Tarekegn, Kotecha, Dipak, Steeds, Richard Paul
Published in Open heart (01.07.2023)
Published in Open heart (01.07.2023)
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Journal Article
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)
Hughes, Derralynn A., Deegan, Patrick, Giraldo, Pilar, Göker-Alpan, Özlem, Lau, Heather, Lukina, Elena, Revel-Vilk, Shoshana, Scarpa, Maurizio, Botha, Jaco, Gadir, Noga, Zimran, Ari
Published in Journal of clinical medicine (31.08.2022)
Published in Journal of clinical medicine (31.08.2022)
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Journal Article