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

Por Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Publicado no Orphanet J Rare Dis (2015)

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

Por Picavet, Eline, Cassiman, David, Hollak, Carla E, Maertens, Johan A, Simoens, Steven
Publicado em 2013

Poikilothermia in a 38-year-old Fabry patient

Por Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
Publicado em 2010

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

Por Arends, Maarten, Körver, Simon, Hughes, Derralynn A., Mehta, Atul, Hollak, Carla E. M., Biegstraaten, Marieke
Publicado no J Inherit Metab Dis (2017)

Developments in the treatment of Fabry disease

Por van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
Publicado no J Inherit Metab Dis (2020)

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

Por Schuller, Yvonne, Gispen‐de Wied, Christine, Hollak, Carla E. M., Leufkens, Hubertus G. M., Stoyanova‐Beninska, Violeta
Publicado no J Clin Pharmacol (2018)

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

Por Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
Publicado no Orphanet J Rare Dis (2015)

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

Por Schuller, Yvonne, Biegstraaten, Marieke, Hollak, Carla E. M., Klümpen, Heinz-Josef, Gispen-de Wied, Christine C., Stoyanova-Beninska, Violeta
Publicado no Orphanet J Rare Dis (2018)

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

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

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

Por Rombach, Saskia M, Smid, Bouwien E, Bouwman, Machtelt G, Linthorst, Gabor E, Dijkgraaf, Marcel G W, Hollak, Carla E M
Publicado em 2013

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

Por Smid, Bouwien E., Ferraz, Maria J., Verhoek, Marri, Mirzaian, Mina, Wisse, Patrick, Overkleeft, Herman S., Hollak, Carla E., Aerts, Johannes M.
Publicado no Orphanet J Rare Dis (2016)

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

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

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

Por van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
Publicado no JIMD Rep (2015)

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

Por Körver, Simon, van de Schraaf, Sara A. J., Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Langeveld, Mirjam
Publicado no JIMD Rep (2019)

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

Por van Ginkel, Willem G., Rodenburg, Iris L., Harding, Cary O., Hollak, Carla E. M., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado no Paediatr Drugs (2019)

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

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

Registries for orphan drugs: generating evidence or marketing tools?

Por Hollak, Carla E. M., Sirrs, Sandra, van den Berg, Sibren, van der Wel, Vincent, Langeveld, Mirjam, Dekker, Hanka, Lachmann, Robin, de Visser, Saco J.
Publicado no Orphanet J Rare Dis (2020)

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

Por 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
Publicado no J Inherit Metab Dis (2018)

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

Por 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
Publicado em 2009

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Por 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.
Publicado no J Am Soc Nephrol (2017)