Results 51 to 60 of about 2,564 (175)

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
doaj   +1 more source

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

BMC Medical Genetics, 2019
Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova   +9 more
doaj   +1 more source

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld   +10 more
doaj   +1 more source

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.

European review for medical and pharmacological sciences, 2022
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for degrading heparan and dermatan sulfate. The IDS gene is located on chromosome Xq28; pathological variants in this gene mostly consist of missense mutations and small and larger deletions ...
Ramírez-Hernández, M.A., Figuera, L.E., Rizo-de la Torre, L.C., Mendoza-Ruvalcaba, M.T. Magaña-Torres¸ S.C., Arnaud-López, L., García-Ortiz, J.E., Zúñiga-González, G.M., Puebla-Pérez, A.M., Gómez-Meda, B.C., Gallegos-Arreola, M.P.   +9 more
openaire   +2 more sources

Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II : an integrated analysis of preclinical and clinical data [PDF]

, 2021
Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously administered enzymes cannot cross the blood–brain barrier (BBB), ERT is ineffective against the progressive neurodegeneration ...
Eto, Yoshikatsu, Giugliani, Roberto, Ikeda, Toshiaki, Martins, Ana Maria (Medicina), Minami, Kohtato, Morimoto, Hideto, Nakamura, Kimitoshi, Okuyama, Torayuki, Sakai, Norio, Sato, Yuji, Schmidt, Mathias, So, Sairei, Sonoda, Hiroyuki, Tanizawa, Kazunori, Yamamoto, Tatsuyoshi, Yamaoka, Mariko   +15 more
core   +1 more source

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline [PDF]

, 2014
Background In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic progressive cognitive decline ...
Anding Xu, Bingxiao Li, Gholson J Lyon, Kai Wang, Lingling Shi, Tianyun Liu, Xueying Ling, Yonglan Huang   +7 more
core   +1 more source

Bioevaluation Of Heparin Oligosaccharides In Correcting Iduronate-2-Sulfatase Deficiency

, 2020
Introduction Mucopolysaccharidoses Type II is caused by an X-linked mutation in IDS gene which produce an enzyme called iduronate 2-sulfatase (IDS) that is essential for the breakdown of glycosaminoglycans. Lack of IDS enzyme activity leads to the accumulation of heparan sulfate and dermatan sulfate within the lysosomes.
Nordin, Fatimah Diana Amin, Affandi Omar, Balqis Kamarudin, Julaina Abdul Jalil   +3 more
openaire   +1 more source

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

BMC Medical Genetics, 2020
Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi   +8 more
doaj   +1 more source

Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review

Journal of Health Economics and Outcomes Research, 2022
**Background:** Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, X-linked, life-limiting lysosomal storage disease characterized by a deficiency in the activity of the enzyme iduronate-2-sulfatase.
Olulade Ayodele, Kersten Müller, Solmaz Setayeshgar, David Alexanderian, Karen S. Yee   +4 more
doaj   +2 more sources

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

Diagnostics, 2020
Mucopolysaccharidosis type II (MPS II) is an X-linked disorder resulting from a deficiency in iduronate 2-sulfatase (IDS), which is reported to be caused by gene mutations in the iduronate 2-sulfatase (IDS) gene.
Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai   +6 more
doaj   +1 more source