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Autor:
Kai Michael Gruhn, Christoph Malte Heyer, Anne-Katrin Güttsches, Robert Rehmann, Volkmar Nicolas, Tobias Schmidt-Wilcke, Martin Tegenthoff, Matthias Vorgerd, Rudolf Andre Kley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 58-64 (2015)
Background: Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized by proximal muscle weakness and respiratory insufficiency. There is evidence from clinical studies that enzyme replacement therapy (ERT)
Externí odkaz:
https://doaj.org/article/fcbcd21b4c69453bb9b6cfb1c2b57310