Zobrazeno 1 - 9
of 9
pro vyhledávání: '"D.G. Horovitz"'
Autor:
Carolina F.M. Souza, Ana Cecília Siqueira, Natália S. Antunes, Dafne D.G. Horovitz, Juan Politei, Charles M. Lourenço, Maria Juliana Rodovalho Doriqui, Débora Lima Souza, Marcial Francis Galera, Leonardo Cury Abrahão, Marcos Almeida Matos, Pedro Henrique Barros Mendes, Tatiana S.P.C Magalhães
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI)
Externí odkaz:
https://doaj.org/article/7d426cec223043d6931f9a3b1b6d1bed
Autor:
Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types
Externí odkaz:
https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7
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:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 19-25 (2015)
Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB (galsulfase, Naglazyme®), and preclinical and clinical studies have shown clinical benefits of early
Externí odkaz:
https://doaj.org/article/7d28379920734275af89e56d54842b54
Autor:
Juan Llerena, Bruna Sixel, Paula Thomazinho, Luanda Salviano, Fernanda Scalco, Amanda Aragão, Anneliese Barth, Dafne D.G. Horovitz
Publikováno v:
Molecular Genetics and Metabolism. 138:107211
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78baa3cd1bdd4d8770de98bc5d4492a4
https://doi.org/10.1016/j.ymgme.2022.107211
https://doi.org/10.1016/j.ymgme.2022.107211
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
Akademický článek
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Autor:
D.G. Horovitz, Patrícia Santana Correia, A.A. Santa Rosa, Marcela Jaqueline Braga, Juan C. Llerena, M. L. Costa de Oliveira, C.R.M. Chaves, C.R. Gayer de Menezes, Ruth Ellen Simoni, C. P. Honório de Oliveira
Publikováno v:
Journal of inherited metabolic disease. 20(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1565e171d351875756d3660cf7b23b
https://pubmed.ncbi.nlm.nih.gov/9323573
https://pubmed.ncbi.nlm.nih.gov/9323573
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.