Associated Papers
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Warnock DG et al.
Journal of Medical Genetics, 2015
26490103 (PubMed )
Supplement: jmedgenet-2015-103471-s1.pdf
Psychiatric and behavioral manifestations of lysosomal storage disorders.
Staretz-Chacham O et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 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
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.
Gupta S et al.
Medicine, 2005
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA et al.
Journal of Human Genetics, 2001
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
Germain DP et al.
American Journal of Human Genetics, 1998
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