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Orphanet Journal of Rare Diseases|December 5, 2024
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published casesOliver Y Urban, Jan H Driedger, Sven F Garbade, et al.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
American Journal of Human Genetics|April 23, 2003
Ovarian failure related to eukaryotic initiation factor 2B mutationsAnne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, et al.
Nature Communications|August 15, 2014
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IVCheng-Chang Chen, Marco Keller, Martin Hess, et al.
The Journal of Nutrition|May 25, 2023
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal LeakIfechukwude Ebenuwa, Pierre-Christian Violet, Sebastian J Padayatty, et al.
Molecular Genetics and Metabolism|October 11, 2011
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implicationsAegean Chan, Walter M Holleran, Tajh Ferguson, et al.
Muscle & Nerve|October 29, 2002
Physiological characterization of neuropathy in Fabry's diseaseCarlos A Luciano, James W Russell, Tapas K Banerjee, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.
Plos One|August 15, 2015
Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' ResponsesBärbel Kästner, Simone Behre, Nadine Lutz, et al.
European Journal of Emergency Medicine : Official Journal of the European Society for Emergency Medicine|September 12, 2024
Laryngeal mask vs. laryngeal tube trial in paediatric patients (LaMaTuPe): a single-blinded, open-label, randomised-controlled trialStephan Katzenschlager, Stefan Mohr, Nikolai Kaltschmidt, et al.
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