Imiglucerase in the treatment of Gaucher disease: a history and perspective

por Deegan, Patrick B, Cox, Timothy M
Publicado 2012

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data

por Raskovalova, Tatiana, Deegan, Patrick B., Yang, Ruby, Pavlova, Elena, Stirnemann, Jérome, Labarère, José, Zimran, Ari, Mistry, Pramod K., Berger, Marc
Publicado 2017

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

por Stepien, Karolina M., Broomfield, Alexander, Cole, Duncan, Deegan, Patrick B., Forshaw-Hulme, Stuart, Hughes, Derralynn, Jovanovic, Ana, Morris, Liz, Muir, Alison, Ramaswami, Uma
Publicado 2023

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data

por Raskovalova, Tatiana, Deegan, Patrick B., Mistry, Pramod K., Pavlova, Elena, Yang, Ruby, Zimran, Ari, Berger, Juliette, Bourgne, Celine, Pereira, Bruno, Labarere, Jose, Berger, Marc G.
Publicado 2020

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

por Colaco, Alexandria, Kaya, Ecem, Adriaenssens, Elias, Davis, Lianne C., Zampieri, Stefania, Fernández‐Suárez, María E., Tan, Chong Y., Deegan, Patrick B., Porter, Forbes D., Galione, Antony, Bembi, Bruno, Dardis, Andrea, Platt, Frances M.
Publicado 2019

Clinical Features of Lysosomal Acid Lipase Deficiency

por Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut-Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Publicado 2015

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 D...

por 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
Publicado 2020

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

por Biegstraaten, Marieke, Arngrímsson, Reynir, Barbey, Frederic, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, van de Mheen, Erica, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter, Hollak, Carla EM
Publicado 2015