Results 21 to 30 of about 25,294 (214)

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

The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”

Frontiers in Molecular Biosciences, 2021
Nonrandomized studies are usually excluded from systematic reviews. This could lead to loss of a considerable amount of information on rare diseases. In this article, we explore the impact of excluding nonrandomized studies on the generalizability of ...
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Andrea Malfettone, José Manuel Pérez-García, José Manuel Pérez-García, Antonio Llombart-Cussac, Antonio Llombart-Cussac, Javier Cortés, Javier Cortés, Javier Cortés, Almudena Pardo, Jordi Pérez-López   +11 more
doaj   +1 more source

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]

, 2011
Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I, Ellinwood, N Matthew, Kakkis, Emil D, Lyons, Jeremiah A, McEntee, Michael F, Passage, Merry B, Wall, Jonathan S   +6 more
core   +3 more sources

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

EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS

Педиатрическая фармакология, 2014
Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms.
L. S. Namazova-Baranova, N. D. Vashakmadze, M. A. Babaikina, E. N. Basargina, N. V. Zhurkova, A. K. Gevorkyan, L. M. Kuzenkova, T. V. Podkletnova, K. V. Zherdev, O. B. Chelpachenko, T. D. Degtyareva   +10 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

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I, Burton, Barbara K, Genter, Fred, Harmatz, Paul, Jones, Simon A, Lau, Heather, Lewis, Gregory D, Mitchell, John J, Muschol, Nicole, Pastores, Gregory M, Shaywitz, Adam J, Sparkes, Rebecca, Sutton, V Reid, Tarnopolsky, Mark, Treadwell, Marsha   +14 more
core   +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

Individual Treatment Trials—Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?

Pharmaceuticals, 2023
Mucopolysaccharidoses (MPS) are a group of rare, heterogeneous, lysosomal storage disorders. Patients show a broad spectrum of clinical features with a substantial unmet medical need.
Anna-Maria Wiesinger, Hannah Strobl, Florian B. Lagler   +2 more
doaj   +1 more source

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

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
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   +2 more sources