Ten years of the Hunter Outcome Survey (HOS) : insights, achievements, and lessons learned from a global patient registry [PDF]
, 2017 Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase.
Beck, Michael +14 more
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Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]
, 2019 Alméciga-Díaz, Carlos J +7 more
core +1 more source
遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. [PDF]
, 1995 博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
396222, 祐川, 和子
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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 +9 more
europepmc +1 more source
An efficient non-viral vector for gene therapy [PDF]
, 2012 Gene therapy is a method with great potential for the treatment of heritable disorders. One difficulty with this approach is that the vectors used in early trials were derived from viruses.
Shah, Bansari
core +1 more source
The diagnosis and management of mucopolysaccharidosis type II
Italian Journal of PediatricsMucopolysaccharidosis 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 +4 more
doaj +1 more source
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis Type II [PDF]
, 2014 Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that
Burin, Maira Graeff +6 more
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Home treatment in paediatric patients with Hunter syndrome: the first Italian experience [PDF]
, 2013 core +1 more source
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene. [PDF]
Hum Mol GenetViswanathan A +8 more
europepmc +1 more source