An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease

por Hollak, Carla EM
Publicado 2012

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

por Hollak, Carla EM, Aerts, Johannes MFG, Aymé, Ségolène, Manuel, Jeremy
Publicado 2011

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease

por van Dussen, Laura, Biegstraaten, Marieke, Hollak, Carla EM, Dijkgraaf, Marcel GW
Publicado 2014

Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications

por van Dussen, Laura, Biegstraaten, Marieke, Dijkgraaf, Marcel GW, Hollak, Carla EM
Publicado 2014

Cost-effectiveness of enzyme replacement therapy for Fabry disease

por Rombach, Saskia M, Hollak, Carla EM, Linthorst, Gabor E, Dijkgraaf, Marcel GW
Publicado 2013

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

por Biegstraaten, Marieke, van Schaik, Ivo N, Wieling, Wouter, Wijburg, Frits A, Hollak, Carla EM
Publicado 2010

Drug Repurposing for Rare Diseases: A Role for Academia

por van den Berg, Sibren, de Visser, Saco, Leufkens, Hubert G.M., Hollak, Carla E.M.
Publicado 2021

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

por Cox, Timothy M, Amato, Dominick, Hollak, Carla EM, Luzy, Cecile, Silkey, Mariabeth, Giorgino, Ruben, Steiner, Robert D
Publicado 2012

Clinical pathways for inborn errors of metabolism: warranted and feasible

por Demirdas, Serwet, van Kessel, Imke N, Korndewal, Marjolein J, Hollak, Carla EM, Meutgeert, Hanka, Klaren, Anja, van Rijn, Margreet, van Spronsen, Francjan J, Bosch, Annet M
Publicado 2013

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

por Smid, Bouwien E, Rombach, Saskia M, Aerts, Johannes MFG, Kuiper, Symen, Mirzaian, Mina, Overkleeft, Hermen S, Poorthuis, Ben JHM, Hollak, Carla EM, Groener, Johanna EM, Linthorst, Gabor E
Publicado 2011

Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg

por Vedder, Anouk C., Linthorst, Gabor E., Houge, Gunnar, Groener, Johannna E.M., Ormel, Els E., Bouma, Berto J., Aerts, Johannes M.F.G., Hirth, Asle, Hollak, Carla E.M.
Publicado 2007

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

por ten Hoedt, Amber E, Hollak, Carla EM, Boelen, Carolien CA, van der Herberg-van de Wetering, N Ada P, ter Horst, Nienke M, Jonkers, Cora F, Wijburg, Frits A, Bosch, Annet M
Publicado 2011

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

por Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla EM, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian CH, Boelen, Carolien CA, Burgerhof, Johannes GM, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Publicado 2013

Kidney and vascular function in adult patients with hereditary fructose intolerance

por Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, Brouwers, Martijn C.G.J.
Publicado 2020

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

por Haring, Martijn P.D., Peeks, Fabian, Oosterveer, Maaike H., Brouwers, Martijn C.G.J., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rennings, Alexander J.M., Wagenmakers, Margreet A.E.M., Verkade, Henkjan J., Derks, Terry G.J., de Meijer, Vincent E.
Publicado 2022

Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care

por Sirks, Marc J., van Dijk, Elon H.C., Rosenberg, Noa, Hollak, Carla E.M., Aslanis, Stamatios, Cheung, Chui Ming Gemmy, Chowers, Itay, Eandi, Chiara M., Freund, K. Bailey, Holz, Frank G., Kaiser, Peter K., Lotery, Andrew J., Ohno‐Matsui, Kyoko, Querques, Giuseppe, Subhi, Yousif, Tadayoni, Ramin, Wykoff, Charles C., Zur, Dinah, Diederen, Roselie M.H., Boon, Camiel J.F., Schlingemann, Reinier O.
Publicado 2022

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