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Pediatrics|February 17, 2005
Pediatric Fabry diseaseMarkus Ries, Surya Gupta, David F Moore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2007
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry diseaseJoe T R Clarke, Michael L West, Jan Bultas, et al.
Journal of Lipid Research|June 8, 2010
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cellsChristine R Kaneski, Raphael Schiffmann, Roscoe O Brady, et al.
The Lancet. Neurology|July 17, 2019
Diagnosis, prognosis, and treatment of leukodystrophiesMarjo S van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
Orphanet Journal of Rare Diseases|October 3, 2020
Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative studyFrederik Hoffmann, Susanne Hoffmann, Kevin Kunzmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.
Journal of Child Neurology|August 28, 2003
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imagingSimona Bonavita, Anette Virta, Neal Jeffries, et al.
International Journal of Mass Spectrometry|March 13, 2012
Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal FluidKristy J Brown, Adeline Vanderver, Eric P Hoffman, et al.
Plos One|March 17, 2015
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher diseaseHila Zigdon, Alon Savidor, Yishai Levin, et al.
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