Fabry's disease

YA Zarate, RJ Hopkin - The Lancet, 2008 - thelancet.com
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson–Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase …

DA Hughes, PM Elliott, J Shah, J Zuckerman… - Heart, 2008 - heart.bmj.com
Background: Anderson–Fabry disease is an X-linked glycosphingolipid storage disorder
caused by deficient activity of the lysosomal enzyme α-galactosidase A. This leads to a …

Onset and progression of the Anderson–Fabry disease related cardiomyopathy

C Kampmann, A Linhart, F Baehner, T Palecek… - International journal of …, 2008 - Elsevier
BACKGROUND: Cardiac involvement is responsible for substantial morbidity and mortality
in Anderson–Fabry disease (AFD). We sought to document its onset and progression in a …

Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement

T Lobo, J Morgan, A Bjorksten, K Nicholls… - Internal Medicine …, 2008 - Wiley Online Library
Aim: The aim of this study was to document exercise capacity and serial electrocardiogram
and echocardiograph findings in a cohort of Australian patients with Fabry disease, in …

Twenty‐four‐month α‐galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

JW Koskenvuo, JJ Hartiala, P Nuutila… - Journal of Inherited …, 2008 - Wiley Online Library
Fabry disease is an X‐linked lysosomal storage disease caused by deficiency of α‐
galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of …

Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy

T Kovacevic-Preradovic, M Zuber… - European journal of …, 2008 - academic.oup.com
Abstract Aims Anderson-Fabry disease affects various organ systems due to
glycosphingolipid accumulation. Enzyme replacement therapy (ERT) has been reported to …

[HTML][HTML] Rescue of mutant α-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

R Hamanaka, T Shinohara, S Yano… - … et Biophysica Acta (BBA …, 2008 - Elsevier
Active-site-specific chaperone therapy for Fabry disease is a genotype-specific therapy
using a competitive inhibitor, 1-deoxygalactonojirimycin (DGJ). To elucidate the mechanism …

Cardiac performance during exercise in patients with Fabry's disease

L Spinelli, E Nicolai, W Acampa… - European journal of …, 2008 - Wiley Online Library
Background Fatigability and dyspnoea on effort are present in many patients with Fabry's
disease. We assessed the determinants of cardiac performance during exercise in patients …

[HTML][HTML] Compromiso cardiovascular en la enfermedad de Fabry

AM Barón, A Barón - Revista Colombiana de Cardiología, 2008 - scielo.org.co
Compromiso cardiovascular en la enfermedad de Fabry SciELO - Scientific Electronic
Library Online vol.15 issue3 Treatment of refractory chest angina with spinal electrical …

Cardiovascular involvement in Fabry disease

AM Barón O, A Barón C - Revista Colombiana de Cardiología, 2008 - scielo.org.co
Cardiovascular involvement in Fabry disease SciELO - Scientific Electronic Library Online
vol.15 issue3 Treatment of refractory chest angina with spinal electrical stimulator: literature …