Family members' knowledge about home care for children with hunter syndrome

Autor: Lidyane Rodrigues Oliveira Santos, Adrícylla Gomes Santos, Kelson Antonio Oliveira Santos, Regilane Barros, Grazielle Silva, Agostinho Araujo

Publikováno v: Revista de Enfermagem da UFPI, Vol 9, Iss 1 (2020)

DOI: https://doi.org/10.26694/reufpi.v9i0.9324 Objetivo: avaliar o conhecimento dos familiares quanto aos cuidados em domicílio à criança com síndrome de Hunter. Metodologia: estudo descritivo exploratório qualitativo, realizado por meio de en

Externí odkaz: https://doaj.org/article/8ee4ca29162a4c3a8e40fb489524e062

Investigação abrangente sobre as razões da alta frequência relativa da Mucopolissacaridose tipo II no Brasil

Autor: Josahkian, Juliana Alves

Publikováno v: Biblioteca Digital de Teses e Dissertações da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Introdução: As mucopolissacaridoses são um grupo de 11 doenças lisossômicas causadas por defeitos enzimáticos específicos relacionados com o catabolismo dos glicosaminoglicanos, que se acumulam e podem ser identificados como biomarcadores dess

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::8b7aaf9dca0952a7a241e66cd1f25333

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Autor: Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Juliana Josahkian, Roberto Giugliani

Publikováno v: Frontiers in Molecular Biosciences
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Frontiers in Molecular Biosciences, Vol 8 (2021)

Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9 exons, spanning appro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e30ff53f0db34b280220b4460bf861
https://doi.org/10.3389/fmolb.2021.789350

Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II : an integrated analysis of preclinical and clinical data

Autor: Giugliani, Roberto, Martins, Ana Maria (Medicina), Okuyama, Torayuki, Eto, Yoshikatsu, Sakai, Norio, Nakamura, Kimitoshi, Morimoto, Hideto, Minami, Kohtato, Yamamoto, Tatsuyoshi, Yamaoka, Mariko, Ikeda, Toshiaki, So, Sairei, Tanizawa, Kazunori, Sonoda, Hiroyuki, Schmidt, Mathias, Sato, Yuji

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously administered enzymes cannot cross the blood–brain barrier (BBB), ERT is ineffective against the progressive neurodegener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::073b58eb7d27a985a03f155888ae5199

Evaluation of the long-term treatment efects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling : data from the Hunter Outcome Survey (HOS)

Autor: Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by defcient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) idursulfase can stabilize or i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::184e5dc0018c9c74aa88467056627307