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Clinical Chemistry|February 8, 2005
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotesMaria Fuller, Peter C Sharp, Tina Rozaklis, et al.
Brain : a Journal of Neurology|February 28, 2014
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cellsAlisdair McNeill, Joana Magalhaes, Chengguo Shen, et al.
Neurochemistry International|October 27, 2012
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damageMichael W J Cleeter, Kai-Yin Chau, Caroline Gluck, et al.
Journal of the American Society of Nephrology : JASN|December 17, 2016
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter StudyMaarten Arends, Christoph Wanner, Derralynn Hughes, et al.
Stem Cell Research|November 18, 2022
Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING geneAtul Mehta, Quan Yu, Yangtengyu Liu, et al.
NPJ Parkinson'S Disease|August 6, 2022
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutationShani Blumenreich, Tamar Nehushtan, Or B Barav, et al.
Experimental Neurology|July 10, 2012
Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress responseAlberto Camacho, Sergio Rodriguez-Cuenca, Margaret Blount, 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.
European Journal of Haematology|December 10, 2019
Cytomegalovirus reactivation after bortezomib treatment for multiple myeloma and light chain amyloidosisFaye A Sharpley, Dunnya De-Silva, Shameem Mahmood, et al.
Orphanet Journal of Rare Diseases|November 27, 2012
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studiesDominique P Germain, Roberto Giugliani, Derralynn A Hughes, et al.
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