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Orphanet Journal of Rare Diseases|January 30, 2020
Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and painSimon Körver, Gert J Geurtsen, Carla E M Hollak, et al.
Molecular Genetics and Metabolism|May 13, 2017
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry diseaseMaarten Arends, Frits A Wijburg, Christoph Wanner, et al.
The American Journal of Clinical Nutrition|October 27, 2017
No metabolic effects of mustard allyl-isothiocyanate compared with placebo in menMirjam Langeveld, Chong Yew Tan, Maarten R Soeters, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2020
Determinants of cerebral radiological progression in Fabry diseaseSimon Körver, Maria G F Longo, Marjana R Lima, et al.
Orphanet Journal of Rare Diseases|October 4, 2024
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique surveyEleonore M Corazolla, Eline C B Eskes, Jorien Veldwijk, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|August 23, 2011
Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry diseaseConstantinos O'Mahony, Caroline Coats, Monserrat Cardona, et al.
JACC. Case Reports|December 18, 2024
Inferolateral Fibrosis in a Nonhypertrophic Left VentricleMaarten A Van Diepen, Manou Speleman, Lourens F H J Robbers, et al.
JIMD Reports|July 8, 2017
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein DeficiencyPeter van Vliet, Annelies E Berden, Mojca K M van Schie, et al.
Journal of Inherited Metabolic Disease|June 1, 2006
CCL18: a urinary marker of Gaucher cell burden in Gaucher patientsRolf G Boot, Marri Verhoek, Mirjam Langeveld, et al.
Molecular Genetics and Metabolism Reports|September 5, 2020
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylationThorsten Marquardt, Vladimir Bzduch, Max Hogrebe, et al.
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