Results 111 to 120 of about 2,564 (175)

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. [PDF]

Mol Genet Metab Rep, 2020
Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T.   +9 more
europepmc   +1 more source

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   +1 more source

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience [PDF]

, 2013

core   +1 more source

Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase. [PDF]

Neurotherapeutics
Jin X, Ye Q, Wu X, Su J, Song L, Fu J, Xu Q, Luo M, Liu F, Ren C, Hu M, Liu M, An Y, Li Q, Li M, Yang Y.   +15 more
europepmc   +1 more source

Iduronate-2-Sulfatase-Regulated Dermatan Sulfate Levels Potentiate the Invasion of Breast Cancer Epithelia through Collagen Matrix. [PDF]

J Clin Med, 2019
Singh V, Jha KK, M JK, Kumar RV, Raghunathan V, Bhat R.   +5 more
europepmc   +1 more source

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease [PDF]

Human Mutation, 1998
L, Gort, M J, Coll, A, Chabás
openaire   +2 more sources

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice. [PDF]

Sci Rep
Lee H, Han JH, Jeong RG, Kang YJ, Choi BH, Kim SR, Cheon CK, Hur J, Lee SY.   +8 more
europepmc   +1 more source

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial. [PDF]

Mol Ther, 2019
Okuyama T, Eto Y, Sakai N, Minami K, Yamamoto T, Sonoda H, Yamaoka M, Tachibana K, Hirato T, Sato Y.   +9 more
europepmc   +1 more source

Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. [PDF]

Cell Death Dis, 2018
Osaki Y, Saito A, Kanemoto S, Kaneko M, Matsuhisa K, Asada R, Masaki T, Orii K, Fukao T, Tomatsu S, Imaizumi K.   +10 more
europepmc   +1 more source

Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene. [PDF]

3 Biotech, 2017
Holmes RS.
europepmc   +1 more source