Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

BACKGROUND: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replac...

Descripción completa

Detalles Bibliográficos
Autores principales: Stephan, Bruno de Oliveira, Quaio, Caio Robledo, Spolador, Gustavo Marquezani, de Paula, Ana Carolina, Curiati, Marco Antônio, Martins, Ana Maria, Leal, Gabriela Nunes, Tenorio, Artur, Finzi, Simone, Chimelo, Flavia Teixeira, Matas, Carla Gentile, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326110/
https://www.ncbi.nlm.nih.gov/pubmed/35882106
http://dx.doi.org/10.1016/j.clinsp.2022.100082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326110/
https://www.ncbi.nlm.nih.gov/pubmed/35882106
http://dx.doi.org/10.1016/j.clinsp.2022.100082

Ejemplares similares