Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Eva C, Vlaar"'
Autor:
Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101149- (2023)
Mucopolysaccharidosis type II (OMIM 309900) is a lysosomal storage disorder caused by iduronate 2-sulfatase (IDS) deficiency and accumulation of glycosaminoglycans, leading to progressive neurodegeneration. As intravenously infused enzyme replacement
Externí odkaz:
https://doaj.org/article/b5d4b8c54ded4c49bef358a40cc79d0d
Autor:
Qiushi Liang, Fabio Catalano, Eva C. Vlaar, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Ans T. van der Ploeg, Niek P. van Til, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 109-130 (2022)
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulation in various tissues, including cardiac and skeletal muscles and the central nervous system (CNS). Enzyme replacement therapy (ERT) improves cardiac,
Externí odkaz:
https://doaj.org/article/310576551caf4a2592416b696428e590
Autor:
Qiushi Liang, Eva C. Vlaar, Fabio Catalano, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Wendy W.J. Unger, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Niek P. van Til
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 520-532 (2022)
Enzyme replacement therapy (ERT) is the current standard treatment for Pompe disease, a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). ERT has shown to be lifesaving in patients with classic infa
Externí odkaz:
https://doaj.org/article/833c3541c3c74a63aa8c8bff6fa7155d