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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
N.D. Vashakmadze, L.S. Namazova-Baranova, A.K. Gevorkyan, L.M. Kuzenkova, A.D. Khristochevskiy, L.M. Vysotskaya, A.S. Dadashev   +6 more
doaj   +7 more sources

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation [PDF]

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +2 more sources

Mucopolysaccharidosis Type II: A Kenyan Case Series

International Journal of Endocrinology, 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.
L. N. Wainaina Mungai, C. M. Njeru, L. A. Nyamai, M. Maina   +3 more
doaj   +3 more sources

Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II. [PDF]

Orphanet J Rare Dis, 2021
Background Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior and functional outcomes in patients
Yee KS, Wu Y, Harrington M, Waisbren SE.
europepmc   +2 more sources

The diagnosis and management of mucopolysaccharidosis type II

Italian Journal of Pediatrics
Mucopolysaccharidosis 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 ...
Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou   +4 more
doaj   +3 more sources

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]

JIMD Rep
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.
Burton BK, Amartino H, Giugliani R, Kampmann C, Raiman J, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Jain S, Muenzer J.   +10 more
europepmc   +2 more sources

Biomarkers in patients with mucopolysaccharidosis type II and IV

Molecular Genetics and Metabolism Reports, 2019
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu   +11 more
doaj   +3 more sources

Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]

Journal of Medical Academics, 2023
Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas, Loraine Quintana-Pájaro, Christian Meza-Valle, Mario Contreras-Arrieta, Huber Padilla-Zambrano, Tariq Janjua, Willem G Calderon-Miranda, Yelson A Picon-Jaimes, Julio Castillo-Blandino, Luis R Moscote-Salazar, Natalia Guevara-Moriones   +10 more
doaj   +1 more source

MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]

Trakia Journal of Sciences, 2020
Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
doaj   +1 more source

Mucopolysachharidosis-II: A Rare Case Report

Nepal Journal of Dermatology, Venereology & Leprology, 2020
Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
doaj   +3 more sources