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Journal of Inherited Metabolic Disease|April 4, 2020
The definition of neuronopathic Gaucher diseaseRaphael Schiffmann, Jeff Sevigny, Arndt Rolfs, et al.Eneuro|October 20, 2015
CSF and Blood Levels of GFAP in Alexander DiseasePaige L Jany, Guillermo E Agosta, William S Benko, et al.Journal of Inherited Metabolic Disease|March 6, 2019
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trialRaphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, et al.Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.Progress in Neurobiology|November 5, 2020
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher diseaseYael Pewzner-Jung, Tammar Joseph, Shani Blumenreich, et al.Studies in Health Technology and Informatics|August 10, 2012
Designing and implementing a biobanking IT framework for multiple research scenariosHans-Ulrich Prokosch, Sebastian Mate, Jan Christoph, et al.Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatElfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.Pageof 27