Results 131 to 140 of about 8,162 (165)
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Mucopolysaccharidosis type II: skeletal–muscle system involvement
Journal of Pediatric Orthopaedics B, 2010Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate.
Sandra Regina, Morini +2 more
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UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II
Acta Paediatrica, 2007Michael, Beck, Ed, Wraith
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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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Newborn screening for mucopolysaccharidosis type II
Molecular Genetics and Metabolism, 2023Barbara K. Burton +10 more
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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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[Clinical aspects of mucopolysaccharidosis type II].
Revista de neurologia, 2008To review the clinical and diagnostic aspects of mucopolysaccharidosis type II (Hunter syndrome).The different phenotypes are described and the multisystem clinical symptoms are considered, with special emphasis on skeletal deformities and cardiorespiratory and neurological complications.Paediatricians and certain specialists (in neurology, ORL ...
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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Cells, 2020Julie B Eisengart +2 more
exaly
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