Results 21 to 30 of about 21,161 (167)

Haematopoietic stem cell gene therapy with IL‐1Ra rescues cognitive loss in mucopolysaccharidosis IIIA

EMBO Molecular Medicine, 2020
Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain.
Helen Parker, Stuart M Ellison, Rebecca J Holley, Claire O'Leary, Aiyin Liao, Jalal Asadi, Emily Glover, Arunabha Ghosh, Simon Jones, Fiona L Wilkinson, David Brough, Emmanuel Pinteaux, Hervé Boutin, Brian W Bigger   +13 more
doaj   +1 more source

Hearing Loss in Mucopolysaccharidosis

International Archives of Otorhinolaryngology, 2021
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical ...
Cibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, Angelina Xavier Acosta   +3 more
doaj   +1 more source

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Diagnostics, 2020
Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy.
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin   +8 more
doaj   +1 more source

Cochlear implantation in a patient with mucopolysaccharidosis IVA

SAGE Open Medical Case Reports, 2019
Mucopolysaccharidosis IVA (OMIM 253000; also known as Morquio A syndrome) is associated with skeletal, airway, and hearing abnormalities. Cochlear implantation is an effective intervention for patients with severe-to-profound hearing loss.
Kyoko Nagao, Cassidy Walter, William J Parkes, Michael Teixido, Mary C Theroux, Stacy Szymkowski, Thierry Morlet, Shunji Tomatsu   +7 more
doaj   +1 more source

Delivering gene therapy for mucopolysaccharide diseases

Frontiers in Molecular Biosciences, 2022
Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage diseases that are caused by enzyme deficiencies, leading to a build-up of glycosaminoglycans (GAGs) throughout the body.
Shaun R. Wood, Brian W. Bigger
doaj   +1 more source

Mucopolysaccharidoses: A rare cause for bilateral cloudy cornea

Journal of Clinical Ophthalmology and Research, 2017
There are many different causes for corneal clouding/opacification which include both local ophthalmic causes as well as systemic causes. Mucopolysaccharidosis is a rare cause. Hence, we present a case of mucopolysaccharidosis type IV, who presented with
Jayshri Vipin Ekhar, Piyush Ashok Madan, Samreen Ayubi, Dipti Solanki   +3 more
doaj   +1 more source

MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]

, 2010
The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core   +1 more source

Delivering genetic education and genetic counseling for rare diseases in rural Brazil [PDF]

, 2013
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million.
Abé-Sandes, K., Giugliani, R., Acosta, A.X., Bittles, Alan H, Abe-Sandes, K, Giugliani, R, Bittles, A.H.   +6 more
core   +1 more source

Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]

, 2012
Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta, Węgrzyn, Alicja, Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Chmielarz, Izabela, Malinowska, Marcelina   +5 more
core   +2 more sources

Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family

The Turkish Journal of Pediatrics, 2018
Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS I is divided into three subtypes based on the severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndrome ...
Songül Gökay, Fatih Kardaş, Mustafa Kendirci, Betül Sözeri   +3 more
doaj   +1 more source