A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

(2010) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease

(2008) S. Ishii et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

(2008) Anouk C. Vedder et al.   MOLECULAR GENETICS AND METABOLISM

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

(2008) Teruo Kitagawa et al.   PEDIATRIC NEPHROLOGY

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

(2008) Sang H. Shin et al.   Pharmacogenetics and Genomics