Results 91 to 100 of about 5,048,722 (239)
The FEBS Journal, EarlyView.Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana +4 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2017 There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer +4 more
doaj +1 more source
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure [PDF]
, 2017 The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging.
Adams, H.R. (Heather R.) +17 more
core +1 more source
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo‐Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the ...
Flávia Caroline Moreira Bezerra +7 more
wiley +1 more source
Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms
EMBO Molecular Medicine, 2018 The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz +8 more
doaj +1 more source
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
International Journal of Neonatal Screening, 2020 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality.
Barbara K. Burton +2 more
doaj +1 more source
Вопросы современной педиатрии, 2023 Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of ...
Natalia V. Zhurkova +7 more
doaj +1 more source
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 +5 more
core +2 more sources
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard +5 more
wiley +1 more source
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]
, 2014 This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Acosta, Angelina +11 more
core +5 more sources