Results 91 to 100 of about 2,842 (215)

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Case Reports in Otolaryngology, 2018
Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births.
Ayako Hashimoto, Tadayuki Kumagai, Hiroyuki Mineta   +2 more
doaj   +1 more source

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes

Scientific Reports, 2023
Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years.
Lorenzo Badenetti, Rosa Manzoli, Marta Trevisan, Francesca D’Avanzo, Rosella Tomanin, Enrico Moro   +5 more
doaj   +1 more source

Low expression of TGF‐β2 and matrilin2 in human aqueous humour with acute primary angle closure

Journal of Cellular and Molecular Medicine, Volume 28, Issue 3, February 2024.
Abstract Primary angle‐closure glaucoma (PACG) is the leading cause of irreversible blindness in the world. Angle closure induced by pupil block and secondary iris synechia is the fundamental pathology of the PACG. The molecular mechanisms of angle closure have not yet been clearly illustrated.
Liming Wang, Zhao Xu, Yaru Hong, Yan Liu, Xiaomin Zhang, Qiang Feng, Dandan Zhang, Kexi Chen, Guli Humaer Yiming, Xiaorong Li, Aihua Liu, Lijie Dong   +11 more
wiley   +1 more source

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome) [PDF]

, 2016
Background Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans.
Andriolo, Regis Bruni, Silva, Edina Mariko Koga da, Silva, Laercio Antonio da, Strufaldi, Maria Wany Louzada   +3 more
core   +2 more sources

Gene therapies for mucopolysaccharidoses

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.
Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry

Molecular Genetics and Metabolism Reports, 2018
Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases.
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Akiya Tatsumi   +3 more
doaj   +1 more source

Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey

JIMD Reports, Volume 65, Issue 1, Page 17-24, January 2024.
Abstract Mucopolysaccharidosis II (MPS II) is a rare, life‐limiting lysosomal storage disease caused by reduced iduronate‐2‐sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from ...
Bianca Link, Jaco Botha, Roberto Giugliani   +2 more
wiley   +1 more source

Predicción computacional de la estructura terciaria de la iduronato 2-sulfato sulfatasa humana

Biomédica: revista del Instituto Nacional de Salud, 2007
Introducción. El síndrome de Hunter o mucopolisacaridosis tipo II (MC KUSIK 309900) es causado por la deficiencia de la iduronato 2-sulfato sulfatasa humana (E.C. 3.1.6.13).
Homero Sáenz, Leonardo Lareo, Raúl A. Poutou, Ángela C. Sosa, Luis A. Barrera   +4 more
doaj   +1 more source

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II Patient treated with enzyme-replacement therapy with Idursulfase [PDF]

, 2012
We report the structural characterization of plasmatic and urinary GAGs in a Patient affected by MPS II (Hunter syndrome) before and during the first ten months of enzyme-replacement therapy (ERT).
AM Martins, C Alcalde-Martín, CB Whitley, CP Dietrich, CR Lima de, D Buzzega, ES Neufeld, F Maccari, GV Coppa, GV Coppa, GV Coppa, GV Coppa, I Sjöberg, J Muenzer, J Muenzer, J Muenzer, JE Wraith, K Tuschl, L Chi, M Fuller, M Fuller, M Juvani, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, N Volpi, PJ Meikle, R Martin, RW Burlingame, T Okuyama   +32 more
core   +1 more source

Prospective studies of swallowing in Mucopolysaccharidosis II (Hunter syndrome) before and after enzyme treatment [PDF]

, 2011
Case study with the aim to evaluate swallowing pre- and post-enzyme treatment of an individual with Mucopolysaccharidosis, and to analyze whether this treatment caused swallowing improvement.
Ferreira, Ana Carolina Rocha Gomes, Guedes, Zelita Caldeira Ferreira   +1 more
core   +4 more sources