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of 4
pro vyhledávání: '"Frank Breunig"'
Autor:
Christoph Wanner, Arndt Rolfs, Frank Breunig, Frank Weidemann, Meinrad Beer, Georg Ertl, Markus Niemann, Stefan Störk, Bart Bijnens
Publikováno v:
Circulation: Cardiovascular Genetics. 7:8-16
Background— Currently, no method is available to identify α-galactosidase A (agalA) mutations determining clinically relevant Fabry disease. In our largest European Fabry cohort, we investigated whether a biomarker, specific for the defect, could
Publikováno v:
Current Opinion in Nephrology and Hypertension. 12:491-495
PURPOSE OF REVIEW: Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. The lack of enzyme activity results in an intracellular accumulation of glycosphingolipids, mainly globotriaosylcer
Autor:
Christoph Wanner, Frank Breunig
Publikováno v:
Journal of the American Society of Nephrology. 18:2426-2428
Proteinuria in advanced Fabry nephropathy does not respond to enzyme replacement therapy (ERT) alone using recombinant agalsidase-α or -β. In this issue of JASN , Tahir et al. [1][1] describe a series of patients who had Fabry nephropathy and achie
Autor:
Frank Weidemann, Georg Ertl, Frank Breunig, Anita Knoll, Meinrad Beer, Oliver Turschner, Christoph Wanner, Wolfram Voelker, Joern J.W. Sandstede, Jörg Strotmann
Publikováno v:
Circulation. 108:1299-1301
Background— Enzyme replacement therapy (ERT) has been shown to enhance microvascular endothelial globotriaosylceramide clearance in the hearts of patients with Fabry disease. Whether these results can be translated into an improvement of myocardial