Results 1 to 10 of about 11,815 (173)

Mucopolysaccharidosis Type II: A Kenyan Case Series. [PDF]

Int J Endocrinol, 2021
Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing. This is due to the accumulation of glycosaminoglycans in body tissues leading to organ failure.
Mungai LNW, Njeru CM, Nyamai LA, Maina M.   +3 more
europepmc   +4 more sources

Nasal Polyposis in mucopolysaccharidosis type II. [PDF]

BMJ Case Rep, 2021
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Kabekkodu S, Sreedharan S, Gupta K, Murali N.   +3 more
europepmc   +3 more sources

The diagnosis and management of mucopolysaccharidosis type II. [PDF]

Ital J Pediatr
AbstractMucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influencing cell function, eventually resulting in ...
Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC.   +4 more
europepmc   +4 more sources

Cervical spondylolisthesis in mucopolysaccharidosis type II. [PDF]

Neurol Sci, 2023
Rossi A, Parenti G.
europepmc   +4 more sources

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +10 more sources

Mucopolysaccharidosis Type II and the G374sp Mutation [PDF]

Molecular Syndromology, 2013
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues.
Martínez-Quintana, E., Rodríguez-González, F.   +1 more
openaire   +3 more sources

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

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

Mucopolysaccharidosis type II

Педиатрическая фармакология, 2011
Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of deficiency of the enzyme alpha-L-iduronosulphatsulphataze.
N.D. Vashakmadze, L.S. Namazova-Baranova, A.K. Gevorkyan, L.M. Kuzenkova, A.D. Khristochevskiy, L.M. Vysotskaya, A.S. Dadashev   +6 more
openaire   +4 more sources

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