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

par Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Publié dans Orphanet J Rare Dis (2015)

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

par Picavet, Eline, Cassiman, David, Hollak, Carla E, Maertens, Johan A, Simoens, Steven
Publié 2013

Poikilothermia in a 38-year-old Fabry patient

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

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

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

Developments in the treatment of Fabry disease

par van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
Publié dans J Inherit Metab Dis (2020)

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

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

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

par Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publié dans Orphanet J Rare Dis (2015)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Registries for orphan drugs: generating evidence or marketing tools?

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

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

par 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
Publié dans J Inherit Metab Dis (2018)

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

par 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
Publié 2009

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

par 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.
Publié dans J Am Soc Nephrol (2017)