Fabry disease results from deficient α-galactosidase A (α-Gal A) activity and the pathologic accumulation of the globotriaosylceramide (GL-3) and related glycosphingolipids, primarily in vascular endothelial lysosomes. Treatment is currently palliative, and affected patients generally die in their 40s or 50s. Preclinical studies of recombinant human α-Gal A (r-hαGalA) infusions in knockout mice demonstrated reduction of GL-3 in tissues and plasma, providing rationale for a phase 1/2 clinical trial. Here, we report a single-center, open-label, dose-ranging study of r-hαGalA treatment in 15 patients, each of whom received five infusions at one of five dose regimens. Intravenously administered r-hαGalA was cleared from the circulation in a dos...
Abstract Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysoso...
BACKGROUND: Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzy...
Fabry disease, an inherited deficiency of the lysosomal enzyme -galactosidase A, causes progressive ...
Fabry disease results from deficient α-galactosidase A (α-Gal A) activity and the pathologic accumul...
Preclinical studies of enzyme-replacement therapy for Fabry disease (deficient α-galactosidase A [α-...
Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant...
Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activi...
Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activi...
# The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Fabry ...
Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant...
Fabry disease is treated by two-weekly infusions with a-galactosidase A. which is deficient in this ...
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulati...
AbstractFabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient ...
Fabry disease is an X-linked lysosomal storage disease (LSD) caused by deficient activity of α-Galac...
Abstract Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that l...
Abstract Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysoso...
BACKGROUND: Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzy...
Fabry disease, an inherited deficiency of the lysosomal enzyme -galactosidase A, causes progressive ...
Fabry disease results from deficient α-galactosidase A (α-Gal A) activity and the pathologic accumul...
Preclinical studies of enzyme-replacement therapy for Fabry disease (deficient α-galactosidase A [α-...
Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant...
Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activi...
Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activi...
# The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Fabry ...
Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant...
Fabry disease is treated by two-weekly infusions with a-galactosidase A. which is deficient in this ...
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulati...
AbstractFabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient ...
Fabry disease is an X-linked lysosomal storage disease (LSD) caused by deficient activity of α-Galac...
Abstract Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that l...
Abstract Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysoso...
BACKGROUND: Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzy...
Fabry disease, an inherited deficiency of the lysosomal enzyme -galactosidase A, causes progressive ...