Quality of life in patients with Fabry disease: a systematic review of the literature

per Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Publicat a Orphanet J Rare Dis (2015)

Poikilothermia in a 38-year-old Fabry patient

per Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
Publicat 2010

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study

per Arends, Maarten, Körver, Simon, Hughes, Derralynn A., Mehta, Atul, Hollak, Carla E. M., Biegstraaten, Marieke
Publicat a J Inherit Metab Dis (2017)

Developments in the treatment of Fabry disease

per van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
Publicat a J Inherit Metab Dis (2020)

Dose‐Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis

per Schuller, Yvonne, Gispen‐de Wied, Christine, Hollak, Carla E. M., Leufkens, Hubertus G. M., Stoyanova‐Beninska, Violeta
Publicat a J Clin Pharmacol (2018)

Bone health in phenylketonuria: a systematic review and meta-analysis

per Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publicat a Orphanet J Rare Dis (2015)

Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness?

per Schuller, Yvonne, Biegstraaten, Marieke, Hollak, Carla E. M., Klümpen, Heinz-Josef, Gispen-de Wied, Christine C., Stoyanova-Beninska, Violeta
Publicat a Orphanet J Rare Dis (2018)

Prevalence of symptoms in female Fabry disease patients: a case-control survey

per Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Publicat 2012

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

per Rombach, Saskia M, Smid, Bouwien E, Bouwman, Machtelt G, Linthorst, Gabor E, Dijkgraaf, Marcel G W, Hollak, Carla E M
Publicat 2013

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease

per Shu, Liming, Vivekanandan-Giri, Anuradha, Pennathur, Subramaniam, Smid, Bouwien E, Aerts, Johannes M FG, Hollak, Carla E M, Shayman, James A
Publicat 2014

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

per van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
Publicat a JIMD Rep (2015)

The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease

per Körver, Simon, van de Schraaf, Sara A. J., Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Langeveld, Mirjam
Publicat a JIMD Rep (2019)

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

per van Ginkel, Willem G., Rodenburg, Iris L., Harding, Cary O., Hollak, Carla E. M., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicat a Paediatr Drugs (2019)

Liver Fibrosis in Type I Gaucher Disease: Magnetic Resonance Imaging, Transient Elastography and Parameters of Iron Storage

per Bohte, Anneloes E., van Dussen, Laura, Akkerman, Erik M., Nederveen, Aart J., Sinkus, Ralph, Jansen, Peter L. M., Stoker, Jaap, Hollak, Carla E. M.
Publicat 2013

Registries for orphan drugs: generating evidence or marketing tools?

per Hollak, Carla E. M., Sirrs, Sandra, van den Berg, Sibren, van der Wel, Vincent, Langeveld, Mirjam, Dekker, Hanka, Lachmann, Robin, de Visser, Saco J.
Publicat a Orphanet J Rare Dis (2020)

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

per Zimran, Ari, Dinur, Tama, Revel-Vilk, Shoshana, Akkerman, Eric M., van Dussen, Laura, Hollak, Carla E. M., Maayan, Hannah, Altarescu, Gheona, Chertkoff, Raul, Maas, Mario
Publicat a J Inherit Metab Dis (2018)

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

per Grabowski, Gregory A., Kacena, Katherine, Cole, J. Alexander, Hollak, Carla E. M., Zhang, Lin, Yee, John, Mistry, Pramod K., Zimran, Ari, Charrow, Joel, vom Dahl, Stephan
Publicat 2009

Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study

per Körver, Simon, Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Longo, Maria G. F., Lima, Marjana R., Dijkgraaf, Marcel G. W., Langeveld, Mirjam
Publicat a J Inherit Metab Dis (2020)

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease

per Körver, Simon, Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Longo, Maria G. F., Lima, Marjana R., Vedolin, Leonardo, Dijkgraaf, Marcel G. W., Langeveld, Mirjam
Publicat a Sci Rep (2019)

Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain

per Körver, Simon, Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Longo, Maria G. F., Lima, Marjana R., Vedolin, Leonardo, Dijkgraaf, Marcel G. W., Langeveld, Mirjam
Publicat a Orphanet J Rare Dis (2020)