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

per Hollak, Carla EM
Publicat 2012

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

per Hollak, Carla EM, Aerts, Johannes MFG, Aymé, Ségolène, Manuel, Jeremy
Publicat 2011

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

per van Dussen, Laura, Biegstraaten, Marieke, Hollak, Carla EM, Dijkgraaf, Marcel GW
Publicat 2014

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

per van Dussen, Laura, Biegstraaten, Marieke, Dijkgraaf, Marcel GW, Hollak, Carla EM
Publicat a Orphanet J Rare Dis (2014)

Cost-effectiveness of enzyme replacement therapy for Fabry disease

per Rombach, Saskia M, Hollak, Carla EM, Linthorst, Gabor E, Dijkgraaf, Marcel GW
Publicat 2013

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

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

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

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

Clinical pathways for inborn errors of metabolism: warranted and feasible

per 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
Publicat 2013

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

per 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
Publicat 2011

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

per 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.
Publicat 2007

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

per 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
Publicat 2011

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

per Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicat a Ann Nutr Metab (2017)

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

per van der Tol, L., Cassiman, David, Houge, Gunnar, Janssen, Mirian C., Lachmann, Robin H, Linthorst, Gabor E, Ramaswami, Uma, Sommer, Claudia, Tøndel, Camilla, West, Michael L, Weidemann, Frank, Wijburg, Frits A, Svarstad, Einar, Hollak, Carla EM, Biegstraaten, Marieke
Publicat a JIMD Rep (2014)

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

per 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
Publicat 2013

Kidney and vascular function in adult patients with hereditary fructose intolerance

per 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.
Publicat a Mol Genet Metab Rep (2020)

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

per 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
Publicat a Orphanet J Rare Dis (2015)