1st School of Medicine Charles University Prague Czech Republic

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Mehta A, Ricci R, Widmer U.et al Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 200434236–242.Analysis of the largest ever published dataset of Anderson‐Fabry disease patients. Comprehensive overview of disease key manifestations, prevalence and significance. PubMed

Nakao S, Takenaka T, Maeda M.et al An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995333288–293.First large study analysing the prevalence of Anderson‐Fabry disease among patients with unexplained cardiac hypertrophy. PubMed

Sachdev B, Takenaka T, Teraguchi H.et al Prevalence of Anderson‐Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 20021051407–1411.Key study indicating larger prevalence of Anderson‐Fabry disease among patients with late onset hypertrophic cardiomyopathy. PubMed

Chimenti C, Pieroni M, Morgante E.et al Prevalence of Fabry disease in female patients with late‐onset hypertrophic cardiomyopathy. Circulation 20041101047–1053. PubMed

Dobrovolny R, Dvorakova L, Ledvinova J.et al Relationship between X‐inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α‐galactosidase A gene in the Czech and Slovak population. J Mol Med 20053647–654. PubMed

Linhart A, Palecek T, Bultas J.et al New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 20001391101–1108.Echocardiographic data on left ventricular structure and function showing the high prevalence of concentric cardiac hypertrophy and remodelling. PubMed

Moon J C, Sachdev B, Elkington A G.et al Gadolinium enhanced cardiovascular magnetic resonance in Anderson‐Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003242151–2155.First study demonstrating fibrotic changes within the basal posterolateral cardiac segments using the gadolinium enhanced magnetic resonance imaging. PubMed

Elliott P M, Kindler H, Shah J S.et al Coronary microvascular dysfunction in male patients with Anderson‐Fabry disease and the effect of treatment with α galactosidase A. Heart 200692357–360.Study demonstrating the decrease of coronary flow reserve in patients with Anderson‐Fabry disease. PubMed PMC

Ommen S R, Nishimura R A, Edwards W D. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart 200389929–930. PubMed PMC

Weidemann F, Breunig F, Beer M.et al Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 20031081299–1301. PubMed

Shah J S, Hughes D A, Sachdev B.et al Prevalence and clinical significance of cardiac arrhythmia in Anderson‐Fabry Disease. Am J Cardiol 200596842–846.First report indicating high prevalence of supraventricular and ventricular arrhythmias in Anderson‐Fabry disease and their relationship to left ventricular structure. PubMed

Schiffmann R, Kopp J B, Austin H A., 3rdet al Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 20012852743–2749.Key randomised study on enzyme replacement therapy with agalsidase‐alfa demonstrating clinical benefits on pain and renal function. PubMed

Eng C M, Guffon N, Wilcox W R, International Collaborative Fabry Disease Study Group et al Safety and efficacy of recombinant human alpha‐galactosidase A–replacement therapy in Fabry's disease. N Engl J Med 20013459–16.Key randomised study on enzyme replacement therapy with agalsidase‐beta demonstrating significant clearance of Gb3 deposits, mainly from endothelial cells from organ biopsies. PubMed

Beck M, Ricci R, Widmer U.et al Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 200434838–844. PubMed

Frustaci A, Chimenti C, Ricci R.et al Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose‐infusion therapy. N Engl J Med 200134525–32. PubMed

van den Hout H P M, Hop W, van Diggelen O P.et al The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003112332–340. PubMed

Klinge L, Straub V, Neudorf U.et al Safety and efficacy of recombinant acid alpha‐glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 20051524–31. PubMed

Arad M, Maron B J, Gorham J M.et al Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005352362–372. PubMed

Mohan U R, Hay A A, Cleary M A.et al Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 200291799–804. PubMed

Guertl B, Noehammer C, Hoefler G. Metabolic cardiomyopathies. Int J Exp Pathol 200081349–372. PubMed PMC

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)