Zobrazeno 1 - 2
of 2
pro vyhledávání: '"enzyme replacement therapy, Pompe disease"'
Publikováno v:
Liječnički vjesnik
Volume 144
Issue Supp 2
Volume 144
Issue Supp 2
Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase. It is a chronic and progressive disease characterized by storage of glycogen mostly in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______951::8868cf4d42a7ff7a22eea5e1c101919c
https://hrcak.srce.hr/file/405365
https://hrcak.srce.hr/file/405365
Autor:
Stefano C. Previtali, Michela Ripolone, Corrado Angelini, Paola Tonin, Antonio Toscano, Dario Ronchi, Lucia Morandi, Olimpia Musumeci, Massimiliano Filosto, Gigliola Fagiolari, Tiziana Mongini, Giacomo P. Comi, Simona Saredi, A. C. Nascimbeni, Raffaella Violano, Andreina Bordoni, Francesco Fortunato, Marco Sandri, M. Sciacco, Valeria Lucchini, Irene Colombo, Stefania Mondello, Maurizio Moggio, Marina Mora
Aims Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0302e959724cbb43da5ca700e43eaa
http://hdl.handle.net/11562/983750
http://hdl.handle.net/11562/983750
