Results 41 to 50 of about 11,815 (173)

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome) [PDF]

Expert Opinion on Orphan Drugs, 2017
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive.
Molly, Stapleton, Francyne, Kubaski, Robert W, Mason, Hiromasa, Yabe, Yasuyuki, Suzuki, Kenji E, Orii, Tadao, Orii, Shunji, Tomatsu   +7 more
openaire   +2 more sources

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey

JIMD Reports, Volume 67, Issue 1, January 2026.
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
Barbara K. Burton, Hernan Amartino, Roberto Giugliani, Christoph Kampmann, Julian Raiman, Maurizio Scarpa, Anna Tylki‐Szymańska, Jennifer Audi, Jaco Botha, Siddarth Jain, Joseph Muenzer   +10 more
wiley   +1 more source

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Osteochondrosis in horses: An overview of genetic and other factors

Equine Veterinary Journal, Volume 58, Issue 1, Page 6-19, January 2026.
Abstract Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs,
Lola Martinez‐Saez, Pablo J. Marín‐García, M. Lola Llobat   +2 more
wiley   +1 more source

Lysosomal storage diseases: mucopolysaccharidosis type I and II

Pediatrician (St. Petersburg), 2021
Mucopolysaccharidosis (MPS) are a genetically heterogeneous group of rare monogenic metabolic diseases associated with hereditary insufficiency of lysosomal enzymes involved in the catabolism of glycosaminoglycans, or mucopolysaccharides. The pathogenesis of MPS is due to the accumulation of non-cleaved glycosaminoglycans in lysosomes, which can ...
Victoria N. Gorbunova, Natalia V. Buchinskaia   +1 more
openaire   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]

, 2014
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara, Alessandra Zanetti, Andrea Borgo, Angelica Rampazzo, Anna Chiara Frigo, Antonia Pascarella, Daniela Concolino, Elena Procopio, Francesca D’Avanzo, Maurizio Scarpa, Nicoletta Gasparotto, Rosella Tomanin, Rossella Parini   +12 more
core   +1 more source

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta, Cathy Duong, Virginia Kimonis, Changrui Xiao   +3 more
wiley   +1 more source

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Interference of oropharyngeal dysphagia in food consumption in patients with mucopolysaccharidosis II [PDF]

, 2012
PURPOSE: this study aimed to relate the degree of dysphagia and food consumption of individuals with mucopolysaccharidosis II (MPS II). METHOD: it was included individuals with MPS II of the genetics department at the State University of Alagoas and ...
Barbosa, Pauliana Buarque, Ferreira, Ana Carolina Rocha Gomes [UNIFESP], Guedes, Zelita Caldeira Ferreira [UNIFESP], Oliveira, Alane Cabral de, Santana, Liziane Damasceno, Veiga, Larissa de Lima Pessoa   +5 more
core   +2 more sources