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

av Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
I publikationen Orphanet J Rare Dis (2015)

Clinical evidence for orphan medicinal products-a cause for concern?

av Picavet, Eline, Cassiman, David, Hollak, Carla E, Maertens, Johan A, Simoens, Steven
Publicerad 2013

Poikilothermia in a 38-year-old Fabry patient

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

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

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

Developments in the treatment of Fabry disease

av van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
I publikationen J Inherit Metab Dis (2020)

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

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

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

av Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
I publikationen Orphanet J Rare Dis (2015)

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

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

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

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

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

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

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

av Smid, Bouwien E., Ferraz, Maria J., Verhoek, Marri, Mirzaian, Mina, Wisse, Patrick, Overkleeft, Herman S., Hollak, Carla E., Aerts, Johannes M.
I publikationen Orphanet J Rare Dis (2016)

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

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

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

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

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

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

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

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

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

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

Registries for orphan drugs: generating evidence or marketing tools?

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

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

av 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
I publikationen J Inherit Metab Dis (2018)

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

av 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
Publicerad 2009

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

av Arends, Maarten, Wanner, Christoph, Hughes, Derralynn, Mehta, Atul, Oder, Daniel, Watkinson, Oliver T., Elliott, Perry M., Linthorst, Gabor E., Wijburg, Frits A., Biegstraaten, Marieke, Hollak, Carla E.
I publikationen J Am Soc Nephrol (2017)