Results 21 to 30 of about 32,710 (240)

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +1 more source

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]

JIMD Rep
ABSTRACT Mucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II
Burton BK, Amartino H, Giugliani R, Kampmann C, Raiman J, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Jain S, Muenzer J.   +10 more
europepmc   +2 more sources

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a ...
F. D’Avanzo, L. Rigon, A. Zanetti, R. Tomanin   +3 more
semanticscholar   +1 more source

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Journal of Medical Genetics, 2021
Background Mucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in the lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to the known MPS subtypes (I–IX ...
S. Verheyen, J. Blatterer, M. Speicher, G. Bhavani, G. Boons, Mai-Britt Ilse, Dominik Andrae, J. Sproß, F. Vaz, S. Kircher, L. Posch-Pertl, D. Baumgartner, T. Lübke, H. Shah, A. Al Kaissi, K. Girisha, B. Plecko   +16 more
semanticscholar   +1 more source

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulation.
Joan Bertolin, Víctor Sánchez, Albert Ribera, M. Jaén, Miquel García, A. Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, X. León, Carles Roca, V. Jiménez, P. Otaegui, F. Mulero, M. Navarro, J. Ruberte, F. Bosch   +18 more
semanticscholar   +1 more source

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

EMBO Molecular Medicine, 2021
Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed ...
K. Sofou, Kolja Meier, Leslie E. Sanderson, Debora Kaminski, L. Montoliu‐Gaya, E. Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, C. Mühlhausen, Niklas Darin, T. S. Barakat, Lars Schlotawa, T. V. van Ham, Jorge Asin Cayuela, F. Sterky   +15 more
semanticscholar   +1 more source

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Cells, 2020
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues.
Christiane S. Hampe, J. Eisengart, T. Lund, Paul J. Orchard, Monika Swietlicka, J. Wesley, R. McIvor   +6 more
semanticscholar   +1 more source

Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities

International Journal of Molecular Sciences, 2021
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans—heparan sulphate and dermatan sulphate—in almost ...
Paweł Zapolnik, A. Pyrkosz
semanticscholar   +1 more source

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II

Molecular Therapy: Methods & Clinical Development, 2021
This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results.
Joo-Hyun Seo, M. Kosuga, T. Hamazaki, H. Shintaku, T. Okuyama   +4 more
semanticscholar   +1 more source