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

著者: Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
出版年 Orphanet J Rare Dis (2015)

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

著者: Picavet, Eline, Cassiman, David, Hollak, Carla E, Maertens, Johan A, Simoens, Steven
出版事項 2013

Poikilothermia in a 38-year-old Fabry patient

著者: Biegstraaten, Marieke, van Schaik, Ivo N., Hollak, Carla E. M., Wieling, Wouter, Linthorst, Gabor E.
出版事項 2010

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

著者: Arends, Maarten, Körver, Simon, Hughes, Derralynn A., Mehta, Atul, Hollak, Carla E. M., Biegstraaten, Marieke
出版年 J Inherit Metab Dis (2017)

Developments in the treatment of Fabry disease

著者: van der Veen, Sanne J., Hollak, Carla E. M., van Kuilenburg, André B. P., Langeveld, Mirjam
出版年 J Inherit Metab Dis (2020)

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

著者: Schuller, Yvonne, Gispen‐de Wied, Christine, Hollak, Carla E. M., Leufkens, Hubertus G. M., Stoyanova‐Beninska, Violeta
出版年 J Clin Pharmacol (2018)

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

著者: Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H
出版年 Orphanet J Rare Dis (2015)

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

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

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

著者: Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
出版事項 2012

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

著者: Rombach, Saskia M, Smid, Bouwien E, Bouwman, Machtelt G, Linthorst, Gabor E, Dijkgraaf, Marcel G W, Hollak, Carla E M
出版事項 2013

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

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

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

著者: Shu, Liming, Vivekanandan-Giri, Anuradha, Pennathur, Subramaniam, Smid, Bouwien E, Aerts, Johannes M FG, Hollak, Carla E M, Shayman, James A
出版事項 2014

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

著者: van der Tol, Linda, Verhamme, Camiel, van Schaik, Ivo N., van der Kooi, Anneke J., Hollak, Carla E. M., Biegstraaten, Marieke
出版年 JIMD Rep (2015)

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

著者: Körver, Simon, van de Schraaf, Sara A. J., Geurtsen, Gert J., Hollak, Carla E. M., van Schaik, Ivo N., Langeveld, Mirjam
出版年 JIMD Rep (2019)

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

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

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

著者: Bohte, Anneloes E., van Dussen, Laura, Akkerman, Erik M., Nederveen, Aart J., Sinkus, Ralph, Jansen, Peter L. M., Stoker, Jaap, Hollak, Carla E. M.
出版事項 2013

Registries for orphan drugs: generating evidence or marketing tools?

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

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

著者: 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
出版年 J Inherit Metab Dis (2018)

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

著者: 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
出版事項 2009

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

著者: 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.
出版年 J Am Soc Nephrol (2017)