Results 131 to 140 of about 5,048,722 (239)

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond

BioDrugs
Mucopolysaccharidosis type II (MPS II) is a rare, pediatric, neurometabolic disorder due to the lack of activity of the lysosomal hydrolase iduronate 2-sulfatase (IDS), normally degrading heparan sulfate and dermatan sulfate within cell lysosomes.
A. Zanetti, R. Tomanin
semanticscholar   +1 more source

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Genetics in Medicine, 2015
Purpose:Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant ...
J. Muenzer, C. Hendriksz, Zheng Fan, S. Vijayaraghavan, V. Perry, S. Santra, G. Solanki, M. Mascelli, Luying Pan, Nan Wang, K. Sciarappa, A. Barbier   +11 more
semanticscholar   +1 more source

Osteoarthropathy in mucopolysaccharidosis type II.

Clujul medical (1957), 2015
Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu, Paula, Grigorescu-Sido, Camelia, Al-Khzouz, Simona, Bucerzan, Carmencita, Denes, Cecilia, Lazea   +5 more
openaire   +1 more source

A case report of a patient with mucopolysaccharidosis type II

Revista Médica del Hospital General de México, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)

Orphanet Journal of Rare Diseases, 2015
BackgroundTwenty-eight treatment-naïve mucopolysaccharidosis II patients (16 months–7.5 years) received 0.5 mg/kg idursulfase weekly for one year in NCT00607386.
A. Pano, A. Barbier, B. Bielefeld, D. Whiteman, D. Amato   +4 more
semanticscholar   +1 more source

Comparative dose effectiveness of intravenous and intrathecal AAV9.CB7.hIDS, RGX-121, in mucopolysaccharidosis type II mice

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disease caused by iduronate-2-sulfatase (IDS) deficiency, leading to accumulation of glycosaminoglycans (GAGs) and the emergence of progressive disease.
Miles C. Smith, L. Belur, Andrea D. Karlen, Olivia Erlanson, Justin W Furcich, T. C. Lund, D. Seelig, K. Kitto, C. Fairbanks, Kwi Hye Kim, Nick Buss, R. McIvor   +11 more
semanticscholar   +1 more source

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. [PDF]

Int J Mol Sci, 2023
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.   +15 more
europepmc   +1 more source

Study on the disease burden of patients with mucopolysaccharidosis type II in China

Orphanet Journal of Rare Diseases
In this study, we investigated the patient population of Mucopolysaccharidosis type II (MPS II) in China, understood the basic situation, prevalence and diagnosis and treatment status of the patients, as well as the economic burden of the patients, and ...
Ni Yuan, Min Li, Shan Wang, Huaxin Yu, Yaqun Wang, Fanyu Dong, Han Chen, Sheng-Nan Duan, Ji Luo   +8 more
semanticscholar   +1 more source

Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential

Cell Death and Disease
Mucopolysaccharidosis (MPS) type II is caused by a deficiency of iduronate-2-sulfatase and is characterized by the accumulation of glycosaminoglycans (GAGs).
Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, Hsien-Sung Huang, Feng-Chiao Tsai, Li-Jen Lee, Hsiang-Yu Lin, Hsiang-Po Huang   +7 more
semanticscholar   +1 more source

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]

, 2016
As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra, Amaral, Olga, Coutinho, Maria Francisca, Duarte, Ana Joana, Matos, Liliana, Santos, Juliana Inês   +5 more
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