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MUCOPOLYSACCHARIDOSIS TYPE II [PDF]

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   +8 more sources

Mucopolysaccharidosis Type II in the Practice of the Physician [PDF]

Aktualʹnaâ Infektologiâ, 2016
The article is devoted to one of the hereditary disea­ses — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide ...
I.Y. Vatanskaya, I.P. Strekozova, I.T. Kotelevskaya   +2 more
doaj   +3 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 Journal of Rare Diseases, 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
Karen S. Yee, Yanyu Wu, Magdalena Harrington, Susan E. Waisbren   +3 more
doaj   +2 more sources

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

JIMD Reports
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.
Barbara K. Burton, Hernan Amartino, Roberto Giugliani, Christoph Kampmann, Julian Raiman, Maurizio Scarpa, Anna Tylki‐Szymańska, Jennifer Audi, Jaco Botha, Siddarth Jain, Joseph Muenzer   +10 more
doaj   +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

Merging evans syndrome with mucopolysaccharidosis type II: a case report [PDF]

Frontiers in Pediatrics
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang, Jing Zhang, Yanhui Tang, Chunyan Liu, Peng Hu, You Yang, Hongying Chen   +6 more
doaj   +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

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes [PDF]

International Journal of Neonatal Screening
Lysosomal diseases (LDs, or Lysosomal Storage Disorders) have become increasingly visible in the newborn screening community, with the addition of mucopolysaccharidosis type II (MPS-II) into the Recommended Uniform Screening Panel in August 2022 and ...
Elya Courtney, Samantha L. Isenberg, Timothy Lim, C. Austin Pickens, Rachel Lee, Carla Cuthbert, Konstantinos Petritis   +6 more
doaj   +2 more sources

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