Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]
PLoS ONE, 2016 Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung +4 more
doaj +2 more sources
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]
PLoS ONE, 2015 Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie +3 more
doaj +2 more sources
Expression of the two iduronate-2-sulfatase cDNAs.
Biochemistry and molecular biology international, 1995 The iduronate-2-sulfatase (IDS) is a lysosomal enzyme that acts on sulphate groups on C-2 positions of the iduronic acid residues of the mucopolysaccharides heparan sulphate and dermatan sulphate. Recently, we described in mouse two IDS mRNAs: the first or canonic (MTA16), highly homologous to the human counterpart, the second or novel (MTA13 ...
DANIELE, Aurora, DI NATALE P.
openaire +4 more sources
Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts [PDF]
International Journal of Neonatal ScreeningMucopolysaccharidosis (MPS) type II, or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Glycosaminoglycan (GAG) accumulation leads to progressive multisystemic involvement, with coarse facial ...
Éliane Beauregard-Lacroix +6 more
doaj +2 more sources
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients [PDF]
Korean Journal of Pediatrics, 2012 PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe.
Ok Jeong Lee +14 more
doaj +3 more sources
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]
Diagnostic Pathology, 2011 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Chkioua Latifa +8 more
doaj +2 more sources
Label–free quantitative urinary proteomics for non-invasive biomarker discovery in endometrial cancer [PDF]
Frontiers in MedicineBackgroundEndometrial cancer (EC) is a growing global healthcare concern. The diagnosis of EC involves invasive techniques. There is a pressing need for reliable, non-invasive screening methods utilizing biomarkers that diagnose these patients.MethodsWe ...
Khalid Akkour +13 more
doaj +2 more sources
Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review [PDF]
BMC PediatricsObjective To highlight the mutations of the iduronate-2-sulfatase (IDS) gene in one family with different origins. Case presentation The proband (case 1) was a 4-year and 7-month-old boy who presented for "inability to fully extend his fingers for over 2
Ruo-Yan Liu, Yang-Li Dai, Chao-Chun Zou
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The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]
PLoS ONE, 2014 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber +3 more
doaj +2 more sources
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes. [PDF]
Sci Rep, 2023 Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years.
Badenetti L +5 more
europepmc +3 more sources