Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

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

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

(2010) Mariëlle J. van Breemen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

(2010) Seiji Saito et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy

(2010) M. D. Sanchez-Nino et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

Fabry disease: a review of current management strategies

(2010) A. Mehta et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

Belgian Fabry Study

(2010) Raf Brouns et al.   STROKE

Mutations of the GLA Gene in Young Patients With Stroke

(2010) Miguel Viana Baptista et al.   STROKE

Functional studies of new GLA gene mutations leading to conformational fabry disease

(2009) C. Filoni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

(2009) Katherine Sims et al.   STROKE

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone

(2008) Masaaki Shimotori et al.   HUMAN MUTATION

Enzyme Activity for Determination of Presence of Fabry Disease in Women Results in 40% False-Negative Results

(2008) Gabor E. Linthorst et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA