Results 91 to 100 of about 2,564 (175)

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

Development of the multi-attribute Adolescent Health Utility Measure (AHUM) [PDF]

, 2012
Objective Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions.
Beusterien, K. M., Brazier, J., Pang, F., Yeung, J-E.   +3 more
core   +2 more sources

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

Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

Stem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source

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

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer [PDF]

, 2016
Alterations in the balance of mRNA and microRNA (miRNA) expression profiles contribute to the onset and development of colorectal cancer. The regulatory functions of individual miRNA-gene pairs are widely acknowledged, but group effects are largely ...
Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Castellana, Stefano, De Cata, Angelo, Fusilli, Caterina, Gentile, Annamaria, Mazza, Tommaso, Mazzoccoli, Gianluigi, Palumbo, Orazio, Panza, Anna, Piepoli, Ada, Rubino, Rosa, Stallone, Raffaella   +13 more
core   +1 more source

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports, 2017
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani   +4 more
doaj   +1 more source

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls [PDF]

, 2012
Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. Affected patients suffer progressive damage to multiple organ systems and early mortality.
A Keilmann, A Rozdzynska, B Link, Barbara K. Burton, C Chih-Kuang, CJ Dean, D Malm, D Marsden, EF Neufeld, EJ Parkinson, G Bach, G Civallero, G Diez-Roux, G Schulze-Frenking, ID Young, ID Young, ID Young, IV Schwartz, J Muenzer, J Muenzer, J Muenzer, JE Wraith, JG Jong de, JH Dangel, JJ McGill, JL Keulemans, K Mahalingam, K Tuschl, KK White, KP Gopaul, LL Pinto, M Piraud, M Scarpa, MH Gelb, MS Muhlebach, NA Chamoles, NJ Mendelsohn, P Mabe, PJ Willems, R Froissart, R Martin, Roberto Giugliani, SA Jones, SP Lin, SS Cathey, T Dierks, T Vieira, V Valayannopoulos, YV Voznyi   +48 more
core   +2 more sources

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

, 2007
Introduction. Hunter syndrome (MC KUSIK 309900) or mucopolysacharidosis type II is due to the deficiency of the enzyme iduronate 2 sulfate sulfatase (E.C. 3.1.6.13). This enzyme has not been crystallized, and therefore the experimental structures are not
Barrera, Luis A., Lareo, Leonardo, Poutou, Raúl A., Sosa, Ángela C., Sáenz, Homero   +4 more
core   +3 more sources

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. [PDF]

Mol Pharm, 2023
Imakiire A, Morimoto H, Suzuki H, Masuda T, Yoden E, Inoue A, Morioka H, Konaka T, Mori A, Shirasaka R, Kato R, Hirato T, Sonoda H, Minami K.   +13 more
europepmc   +1 more source