Results 61 to 70 of about 783 (129)

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 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

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

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

Additional file 1 of Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

, 2021
Additional file 1. Table S1 Summary of demographics and clinical characteristics for patients included in at least one statistical model. Table S2 Comparison of results from two modeling approaches to evaluate palpable liver size over time following IV ...
Paul Harmatz (426492), Barbara K. Burton (3849295), Joseph Muenzer (11627733), Jaco Botha (2792269), Roberto Giugliani (398540), Christoph Kampmann (3112212)   +5 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

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

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

, 2014
BackgroundMucopolysaccharidosis 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], Maria Wany Louzada Strufaldi, Régis B Andriolo, Andriolo, Regis Bruni [UNIFESP], Laercio A Silva, Silva, Edina Mariko Koga da [UNIFESP], Edina MK da Silva   +7 more
core   +1 more source

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

Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings

Molecular Genetics and Metabolism Reports
Introduction: Enzyme replacement therapy (ERT) with intravenous idursulfase is the standard of care for patients with mucopolysaccharidosis II (MPS II; Hunter syndrome). Data are limited for children aged ≤12 months.
Barbara K. Burton, Bernd Schweikert, Hernàn Amartino, Maira Sharipova, Jaime Lopez-Valdez, Deniz Kor, Huseyin Bilgin, Walla Al-Hertani, Ana Maria Martins, Dimitrios Zafeiriou, Nathalie Guffon, Olivia Okoli, Diana Sanchez-Hernandez, Jennifer Audi, Jaco Botha, Csaba Siffel, Olulade Ayodele   +16 more
doaj   +1 more source