Results 51 to 60 of about 2,595 (198)

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

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

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

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]

, 2017
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia, Kunin-Batson, Alicia, Polgreen, Lynda E, Rudser, Kyle, Utz, Jeanine J, Vehe, Richard K, Whitley, Chester B   +6 more
core   +3 more sources

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

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

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

Establishment of a integrative multi-omics expression database CKDdb in the context of chronic kidney disease (CKD) [PDF]

, 2017
Complex human traits such as chronic kidney disease (CKD) are a major health and financial burden in modern societies. Currently, the description of the CKD onset and progression at the molecular level is still not fully understood.
Fernandes, Marco, Husi, Holger
core   +1 more source

A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2015
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar, Deepa Narayanan C., Raj A.C., Sandeepa N.C., Deepika Nappalli   +4 more
doaj   +1 more source