Results 181 to 190 of about 5,048,722 (239)

A molecular genetics view on Mucopolysaccharidosis Type II

Mutation Research/Reviews in Mutation Research, 2021
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene.
Shalja Verma, Supansa Pantoom, Janine Petters, Anand Kumar Pandey, Andreas Hermann, Jan Lukas   +5 more
openaire   +3 more sources

Expanding the phenotype of mucopolysaccharidosis type II retinopathy

Ophthalmic Genetics, 2021
Purpose: To report novel retinal findings in two male patients with mucopolysaccharidosis type II (Hunter syndrome) receiving long-term human recombinant idursulfase enzyme replacement therapy.Method: Two males aged 19 and 26 years who had received enzyme replacement therapy for 12 and 13 years, respectively, with good compliance and no infusion ...
Tanya Kowalski, Jonathan B Ruddle, Gerard de Jong, Heather G Mack   +3 more
openaire   +2 more sources

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Molecular Genetics and Metabolism, 2020
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2 m to
A. Broomfield, J. Davison, Jane Roberts, C. Stewart, P. Hensman, C. Beesley, K. Tylee, S. Rust, B. Schwahn, E. Jameson, S. Vijay, S. Santra, S. Sreekantam, U. Ramaswami, A. Chakrapani, J. Raiman, M. Cleary, Simon A. Jones   +17 more
semanticscholar   +1 more source

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.

Molecular Genetics and Metabolism
PURPOSE This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS ...
J. Muenzer, Hernán Amartino, Barbara K. Burton, Maurizio Scarpa, A. Tylki-Szymańska, J. Audi, Jaco Botha, Daniel Fertek, David Merberg, M. Natarajan, David A. H. Whiteman, Roberto Giugliani   +11 more
semanticscholar   +1 more source

Idursulfase for the treatment of mucopolysaccharidosis II

Expert Opinion on Pharmacotherapy, 2008
Human recombinant proteins are being used to treat an increasing number of disorders. Advances in the large scale production of recombinant proteins and the understanding of glycosylation and its importance for protein targeting and function have led to the development of recombinant enzyme-replacement regimens for a number of human lysosomal storage ...
openaire   +2 more sources

Mucopolysaccharidosis type II – genotype/phenotype aspects

Acta Paediatrica, 2002
Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore,
Froissart, R, Silva, IMoreira da, Guffon, N, Bozon, D, Maire, I   +4 more
openaire   +3 more sources

Mucopolysaccharidosis type II: an update on mutation spectrum

Acta Paediatrica, 2007
AbstractMucopolysaccharidosis type II (MPS II; Hunter disease) is caused by deficiency of the enzyme iduronate‐2‐sulphatase (IDS) and patients present with a wide range of clinical signs and symptoms. The level of activity of IDS, however, does not allow prediction of phenotype.
Roseline, Froissart, Isabel Moreira, Da Silva, Irène, Maire   +2 more
openaire   +2 more sources

Central Corneal Thickness in Mucopolysaccharidosis II and VI

Cornea, 2010
To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection.Twenty-eight patients with MPS (19 MPS II, nine MPS VI) underwent pachymetric investigation of CCT. Additionally, ultrasound measurements of axial length
Ulrike, Kottler, Deniz, Demir, Irene, Schmidtmann, Michael, Beck, Susanne, Pitz   +4 more
openaire   +2 more sources

Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)

Pediatrics, 2008
Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and ...
Rick, Martin, Michael, Beck, Christine, Eng, Roberto, Giugliani, Paul, Harmatz, Verónica, Muñoz, Joseph, Muenzer   +6 more
openaire   +2 more sources

Growth patterns in children with mucopolysaccharidosis I and II

World Journal of Pediatrics, 2014
Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II.The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed.
Agnieszka, Różdżyńska-Świątkowska, Agnieszka, Jurecka, Joachim, Cieślik, Anna, Tylki-Szymańska   +3 more
openaire   +2 more sources