Associated Papers
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Welford RWD et al.
Human Molecular Genetics, 2018
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S et al.
Molecular Genetics and Metabolism, 2016
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Wozniak MA et al.
Stroke, 2010
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
Fabry disease cardiomyopathy: A state-of-the-art review.
Pande S et al.
Progress in Cardiovascular Diseases, 0
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