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[Prenatal diagnosis of mucopolysaccharidosis type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011To establish a method of iduronate-2-sulfatase (IDS) activity assay and mutation analysis of IDS gene for the prenatal diagnosis of mucopolysaccharidosis type II (MPSII).Prenatal diagnosis of two cases was performed using cultured fetal amniotic fluid cells.
Xin-shun, Zhang +2 more
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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Cells, 2020Julie B Eisengart +2 more
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Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities
International Journal of Molecular Sciences, 2021Paweł Zapolnik
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Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain
Biomolecules, 2020Valeria de Pasquale +2 more
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Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement
Biomolecules, 2021Julie B Eisengart +2 more
exaly
Mucopolysaccharidosis type II, Hunter's syndrome.
Pediatric endocrinology reviews : PER, 2014Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided into severe (2/3) and attenuated types.
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Gene Therapy Ameliorates Cardiovascular Disease in Dogs With Mucopolysaccharidosis VII
Circulation, 2004M E Haskins, K P Ponder
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