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

por Arends, Maarten, Hollak, Carla E. M., Biegstraaten, Marieke
Publicado 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 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 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 2017

Drug Repurposing for Rare Diseases: A Role for Academia

por van den Berg, Sibren, de Visser, Saco, Leufkens, Hubert G.M., Hollak, Carla E.M.
Publicado 2021

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 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 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 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 2018

Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects

por Polak, Yasmin, Jacobs, Bart A. W., Bouwhuis, Natalja, Hollak, Carla E. M., Kroon, Maurice A. G. M., Kemper, Elles Marleen
Publicado 2023

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 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 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 2016

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report

por Stolwijk, Nina N., Langeveld, Mirjam, Jacobs, Bart A. W., Vogt, Liffert, Haverkamp, Jorien A., Ferdinandusse, Sacha, Hollak, Carla E. M.
Publicado 2022

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 2014

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 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 2019

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

por Hermans, Merel E., van Oers, Hedy A., Geurtsen, Gert J., Haverman, Lotte, Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Publicado 2023

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 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 2020