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The British Journal of Dermatology|March 20, 2004
Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicionG E Linthorst, M A De Rie, K H Tjiam, et al.Journal of Inherited Metabolic Disease|August 31, 2023
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolismN N Stolwijk, A M Bosch, N Bouwhuis, et al.Journal of Medical Genetics|October 3, 2009
Screening for Fabry disease in high-risk populations: a systematic reviewG E Linthorst, M G Bouwman, F A Wijburg, et al.The Oncologist|February 25, 2026
Cost implications of early treatment discontinuation in cancer: a real-world data analysisH C Post, K Opmeer, T Schutte, et al.Journal of Medical Genetics|August 8, 2013
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significanceL van der Tol, B E Smid, B J H M Poorthuis, et al.Journal of Inherited Metabolic Disease|September 13, 2007
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic malesA C Vedder, V E A Gerdes, B J H M Poorthuis, et al.ESMO Open|November 13, 2025
Access to anticancer and orphan medicines through compassionate use programs and named patient basis in seven European countriesN Rosenberg, H C Post, T Schutte, et al.Journal of Inherited Metabolic Disease|September 20, 2007
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safeJ Cox-Brinkman, R G M Timmermans, F A Wijburg, et al.Molecular Genetics and Metabolism|January 16, 2022
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progressionS J van der Veen, S Körver, A Hirsch, et al.Molecular Genetics and Metabolism|June 13, 2006
Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapyA C Vedder, J Cox-Brinkman, C E M Hollak, et al.Pageof 6