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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
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
Hughes, Derralynn A, Bichet, Daniel G, Giugliani, Roberto, Hopkin, Robert J, Krusinska, Eva, Nicholls, Kathleen, Olivotto, Iacopo, Feldt-Rasmussen, Ulla, Sakai, Norio, Skuban, Nina, Sunder-Plassmann, Gere, Torra, Roser, Wilcox, William R
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Journal Article
Alpha-synuclein inclusions reduced by PIKfyve inhibition in Parkinson disease cell models
Lucas-Del-Pozo, Sara, Uras, Giuseppe, Fierli, Federico, Lentini, Veronica, Koletsi, Sofia, Lazaro-Hernandez, Carlos, Chau, Kai-Yin, Hughes, Derralynn A., Schapira, Anthony H.V.
Published in Neurobiology of disease (15.10.2025)
Published in Neurobiology of disease (15.10.2025)
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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
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
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
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
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
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
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari
Published in Internal medicine journal (01.05.2019)
Published in Internal medicine journal (01.05.2019)
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Journal Article
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy
Ramaswami, Uma, Pintos-Morell, Guillem, Kampmann, Christoph, Nicholls, Kathleen, Niu, Dau-Ming, Reisin, Ricardo, West, Michael L., Anagnostopoulou, Christina, Botha, Jaco, Jazukeviciene, Dalia, Schenk, Jörn, Hughes, Derralynn A., Giugliani, Roberto
Published in Molecular genetics and metabolism reports (01.06.2025)
Published in Molecular genetics and metabolism reports (01.06.2025)
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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