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Journal of Inherited Metabolic Disease|August 27, 2019
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohortAlbina Nowak, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl, et al.
European Journal of Medical Genetics|June 25, 2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutationReza Asadollahi, Markus Zweier, Laura Gogoll, et al.
Molecular Genetics and Metabolism|October 19, 2021
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3Emily Daykin, Nicole Fleischer, Magy Abdelwahab, et al.
Scientific Reports|September 28, 2016
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseasesXi Zoë Zhong, Xue Sun, Qi Cao, et al.
Molecular Genetics and Metabolism|December 26, 2006
Cellular and tissue distribution of intravenously administered agalsidase alfaGary J Murray, Miriam R Anver, Maureen A Kennedy, et al.
Molecular Genetics and Metabolism|July 24, 2007
Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin-Song Shen, Xing-Li Meng, Raphael Schiffmann, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|April 14, 2005
Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathyAmna Al-Futaisi, Brenda Banwell, Ayako Ochi, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|November 11, 2015
Impaired growth of the cerebellum in pediatric-onset acquired CNS demyelinating diseaseKatrin Weier, Vladimir Fonov, Bérengère Aubert-Broche, et al.
Journal of Neurology|December 24, 2017
Attitudes, perceptions, and use of marijuana in youth with multiple sclerosisJ Nicholas Brenton, Teri Schreiner, Krystle Karoscik, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|January 17, 2020
World Health Organization Essential Medicines List: Multiple sclerosis disease-modifying therapies applicationJennifer McDonell, Kathleen Costello, Joanna Laurson-Doube, et al.
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