Drug Repurposing for Rare Diseases: A Role for Academia by Sibren van den Berg, Sibren van den Berg, Saco de Visser, Hubert G.M. Leufkens, Carla E.M. Hollak, Carla E.M. Hollak

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Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients by Merel E. Hermans, Gert J. Geurtsen, Carla E. M. Hollak, Annet M. Bosch

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Oncologic orphan drugs approved in the EU – do clinical trial data correspond with real-world effectiveness? by Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied, Violeta Stoyanova-Beninska

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Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects by Yasmin Polak, Bart A. W. Jacobs, Natalja Bouwhuis, Carla E. M. Hollak, Maurice A. G. M. Kroon, Elles Marleen Kemper

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Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report by Nina N. Stolwijk, Mirjam Langeveld, Bart A. W. Jacobs, Liffert Vogt, Jorien A. Haverkamp, Sacha Ferdinandusse, Carla E. M. Hollak

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The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease by Simon Körver, Sara A. J. van deSchraaf, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. vanSchaik, Mirjam Langeveld

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The challenges of classical galactosemia: HRQoL in pediatric and adult patients by Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch

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Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage. by Anneloes E Bohte, Laura van Dussen, Erik M Akkerman, Aart J Nederveen, Ralph Sinkus, Peter L M Jansen, Jaap Stoker, Carla E M Hollak

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Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease by Eline C. B. Eskes, Martijn J. C. van derLienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak

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Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain by Simon Körver, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Maria G. F. Longo, Marjana R. Lima, Leonardo Vedolin, Marcel G. W. Dijkgraaf, Mirjam Langeveld

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Access to medicines for rare diseases: A European regulatory roadmap for academia by Noa Rosenberg, Noa Rosenberg, Sibren van den Berg, Sibren van den Berg, Nina N. Stolwijk, Nina N. Stolwijk, Bart A. W. Jacobs, Bart A. W. Jacobs, Bart A. W. Jacobs, Hendrika C. Post, Hendrika C. Post, Anna M. G. Pasmooij, Anna M. G. Pasmooij, Saco J. de Visser, Saco J. de Visser, Carla E. M. Hollak, Carla E. M. Hollak

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. by Anouk C Vedder, Gabor E Linthorst, Gunnar Houge, Johannna E M Groener, Els E Ormel, Berto J Bouma, Johannes M F G Aerts, Asle Hirth, Carla E M Hollak

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Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. by Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak

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Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study by Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

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ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study by Mohamed El Sayed, Pieter G. Postema, Mareen Datema, Laura van Dussen, Jan A. Kors, Cato C. ter Haar, Hidde Bleijendaal, Henrike Galenkamp, Bert-Jan H. van den Born, Carla E. M. Hollak, Mirjam Langeveld

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Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. by Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst

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Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease by Sanne J. van der Veen, Wytze J. Vlietstra, Laura van Dussen, André B.P. van Kuilenburg, Marcel G. W. Dijkgraaf, Malte Lenders, Eva Brand, Christoph Wanner, Derralynn Hughes, Perry M. Elliott, Carla E. M. Hollak, Mirjam Langeveld

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Kidney and vascular function in adult patients with hereditary fructose intolerance by Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers

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Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation by André B. P. van Kuilenburg, Carla E. M. Hollak, Ana Travella, Melisa Jacobs, Lucas D. Gentilini, René Leen, Karen M. M. Ghauharali-van der Vlugt, Femke S. Beers Stet, Susan M. I. Goorden, Sanne van der Veen, Marcelo Criscuolo, Mariana Papouchado

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High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia by Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer

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