Results 71 to 80 of about 2,564 (175)

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

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit, Oana Marginean, Carmen Duicu, Cristina Campean, Maria Oana Marginean   +4 more
doaj   +1 more source

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
Abstract Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment.
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
wiley   +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

Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2002
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Daniele, A, Tomanin, R, Villani, G. R. D, Zacchello, F, Scarpa, M, Di Natale, P   +5 more
openaire   +6 more sources

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Christoph Kampmann, Christina Lampe, Christiane M. Wiethoff, Laila Arash‐Kaps, Eugen Mengel, Joerg Reinke, Michael Beck, Julia B. Hennermann, Tariq Abu‐Tair   +8 more
wiley   +1 more source

Ancestral lysosomal enzymes with increased activity harbor therapeutic potential for treatment of Hunter syndrome

iScience, 2021
Summary: We show the successful application of ancestral sequence reconstruction to enhance the activity of iduronate-2-sulfatase (IDS), thereby increasing its therapeutic potential for the treatment of Hunter syndrome—a lysosomal storage disease caused ...
Natalie M. Hendrikse, Anna Sandegren, Tommy Andersson, Jenny Blomqvist, Åsa Makower, Dominik Possner, Chao Su, Niklas Thalén, Agneta Tjernberg, Ulrica Westermark, Johan Rockberg, Stefan Svensson Gelius, Per-Olof Syrén, Erik Nordling   +13 more
doaj   +1 more source

Identification of an Alternative Transcript from the Human Iduronate-2-sulfatase (IDS) Gene

Genomics, 1995
Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported.
H, Malmgren, B M, Carlberg, U, Pettersson, M L, Bondeson   +3 more
openaire   +2 more sources

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source