Results 91 to 100 of about 1,973 (193)

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I

Journal of Orthopaedic Research, Volume 42, Issue 7, Page 1409-1419, July 2024.
Abstract Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient alpha‐l‐iduronidase activity, leading to abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life.
Yian Khai Lau, Keerthana Iyer, Snehal Shetye, Chet S. Friday, George R. Dodge, Michael W. Hast, Margret L. Casal, Rahul Gawri, Lachlan J. Smith   +8 more
wiley   +1 more source

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Drug Design, Development and Therapy, 2022
Chung-Lin Lee,1– 5 Chih-Kuang Chuang,6,7 Huei-Ching Chiu,1 Ru-Yi Tu,6 Yun-Ting Lo,5 Ya-Hui Chang,1,5 Shuan-Pei Lin,1,3,5,6,8 Hsiang-Yu Lin1,3– 6,9 1Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; 2Institute of Clinical Medicine ...
Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY   +7 more
doaj  

Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center

Molecular Genetics and Metabolism Reports, 2020
Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez, Juan Manuel Muñoz-Vidal, Guillermo Hernando Rodríguez-Vélez, María Amparo Acosta-Aragón   +3 more
doaj   +1 more source

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL) [PDF]

, 2016
International audienceAbstractRare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development ...
A Denis, A Desser, A Dupont, A Farrugia, A Ferrario, A Kesselheim, A Schieppati, A Sharma, Adam Hutchings, AIFA (Italian Medicines Agency), B Adams, B Jönsson, B Potter, C Palaska, C Schey, C Schey, C Solon, Carlo Tomino, D Endrei, D Hughes, D Mullins, D Tordrup, David Taylor, E Augustine, Elena Nicod, EMA (European Medicine Agency), EMA (European Medicine Agency), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUCERD (The European Union Committee of Experts on Rare Diseases), EUnetHTA (European Network for Health Technology Assessment), EUPATI (The European Patients’ Academy), EUPATI (The European Patients’ Academy), EUR-Lex Access to European Union law, European Commission, European Commission, European Commission, European Commission, EURORDIS, EURORDIS, HTAi (Health Technology Assessment International), I Onakpoya, IRDiRC-EMA (The International Rare Diseases Research Consortium and European Medicine Agency), J Mestre-Ferrandiz, J Sussex, J Whitty, Jean-Louis Roux, Josep Torrent-Farnell, K Facey, K Facey, K Simon, K Staley, Karen Facey, L Barham, L Drummond, L Gutierrez, L Schnipper, Lieven Annemans, Lugdivine Le Dez, M Douglas, M Drummond, M Field, M Garau, M Mazzucato, M Paulden, M Schlander, M Schlander, M Wagner, Michael Schlander, Michele Reni, N Cherny, N Grubert, NHS England Cancer Drugs Fund Tram. Appraisal and Funding of Cancer Drugs from July 2016 (including the new Cancer Drug Fund), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), NICE (The National Institute for Health and Care Excellence, England), O Lantrès, P Kanavos, P Rollet, P Vickers, P Wahlster, P Williams, Penilla Gunther, R Griggs, R Vrueh de, Rare Disease Task Force, S Aardweg Van den, S Berglas, S Gasson, S Kleijnen, S Simoens, S Simoens, Sheela Upadhyaya, Ségolène Aymé, T Gammie, T Morel, V Fedyaeva, V Paris, W Hughes-Wilson, W Liney, WHO (World Health Organization), Yann Le Cam   +104 more
core   +6 more sources

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

JIMD Reports, Volume 65, Issue 2, Page 85-101, March 2024.
Abstract Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India.
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth   +11 more
wiley   +1 more source

Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice

Molecular Therapy: Nucleic Acids
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu   +6 more
doaj   +1 more source

Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Diagnostic Pathology, 2011
Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes.
Chkioua Latifa, Khedhiri Souhir, Ferchichi Salima, Miled Abdelhedi, Laradi Sandrine   +4 more
doaj   +1 more source

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome [PDF]

, 2016
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
AlSayed, MD, Berger, KI, Burton, BK, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Shaywitz, AJ, Slasor, P, Solano Villarreal, ML, Stewart, F   +16 more
core   +1 more source

Gene therapies for mucopolysaccharidoses

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.
Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).

The Angle orthodontist, 2006
PubMed ID ...
Ertan Erdinç A.M., Önçag G., Cal E.
openaire   +2 more sources