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pro vyhledávání: '"Anneliese L. Barth"'
Autor:
Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 62-68 (2017)
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and
Externí odkaz:
https://doaj.org/article/d106bbd7c24241ee85e1b7be302c0ab4
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurolog
Externí odkaz:
https://doaj.org/article/046d49182b824391aee55e008044d0c3
Publikováno v:
Molecular Genetics and Metabolism. 138:107153
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fa263ddf701e308899b5f99a46d08d4
https://doi.org/10.1016/j.ymgme.2022.107153
https://doi.org/10.1016/j.ymgme.2022.107153