Results 71 to 80 of about 854 (165)

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II:data from the Hunter Outcome Survey (HOS) [PDF]

, 2017
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a life-limiting, multisystemic disease with varying presentation and severity.
Jones, Simon A., Barbara K. Burton, Simon A. Jones, Jego, Virginie, Jaromir Mikl, Burton, Barbara K., Mikl, Jaromir, Virginie Jego   +7 more
core   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)

Journal of Inborn Errors of Metabolism and Screening, 2023
Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in Brazil from ...
Fernanda Tenório, Carolina Fischinger Moura de Souza   +1 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

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Orphanet Journal of Rare Diseases, 2017
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available
Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A. H. Whiteman   +14 more
doaj   +1 more source

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

, 2010
To use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II)
Barbara K. Burton, Jones, SA, Burton, BK, GUFFON N, VAN DER PLOEG AT, Jane Roberts, van der Ploeg, Ans, SCARPA, MAURIZIO, BURTON BK, Guffon, N, Simon A. Jones, Feliciani, Claudio, ROBERTS J, Nathalie Guffon, Ans T. van der Ploeg, JONES SA, Roberts, J, van, der Ploeg AT, Van Der Ploeg, At   +18 more
core   +1 more source

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) [PDF]

, 2021
Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by defcient iduronate-2-sulfatase activity.
Giugliani, Roberto, Kampmann, Christoph, Botha, Jaco, Harmatz, Paul, Burton, Barbara K., Muenzer, Joseph   +5 more
core   +1 more source

Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor

Molecular Genetics and Metabolism Reports, 2020
The efficacy of enzyme replacement therapy (ERT) for lysosomal storage diseases (LSDs) possibly depends on the cellular uptake of recombinant lysosomal enzymes (LEs), and it is known that cation-independent mannose 6-phosphate receptor (CI-M6PR) on the ...
Minori Kanzaki, Takahiro Tsukimura, Yasunori Chiba, Hitoshi Sakuraba, Tadayasu Togawa   +4 more
doaj   +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.
Silva, Laercio Antonio da [UNIFESP], Strufaldi, Maria Wany Louzada [UNIFESP], Andriolo, Regis Bruni, Silva, Edina Mariko Koga da [UNIFESP]   +3 more
core   +1 more source

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

, 2017
Purpose: The primary objective of this study was to determine the safety of idursulfase in Hunter syndrome patients aged 5 years or younger. ;Methods: Idursulfase (0.5 mg/kg) was administered intravenously on a weekly basis (52 infusions per patient) in ...
Giugliani, Roberto;Hwu, Wuh-Liang;Tylki-Szymanska, Anna;Whiteman, David A. H.;Pano, Arian, 胡務亮   +1 more
core   +1 more source