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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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Structural gene aberrations in mucopolysaccharidosis II (Hunter)
Human Genetics, 1992A total of 14 unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency (Hunter syndrome, MPS II) showing variable clinical manifestations was screened for structural gene aberrations by Southern analysis. Using the IDS cDNA clone c2S15 as a probe, no Southern fragments could be detected in blots in the severely affected patient G ...
M, Wehnert +3 more
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Mucopolysaccharidosis type II: an update on mutation spectrum
Acta Paediatrica, 2007AbstractMucopolysaccharidosis type II (MPS II; Hunter disease) is caused by deficiency of the enzyme iduronate‐2‐sulphatase (IDS) and patients present with a wide range of clinical signs and symptoms. The level of activity of IDS, however, does not allow prediction of phenotype.
Roseline, Froissart +2 more
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Idursulfase for the treatment of mucopolysaccharidosis II
Expert Opinion on Pharmacotherapy, 2008Human recombinant proteins are being used to treat an increasing number of disorders. Advances in the large scale production of recombinant proteins and the understanding of glycosylation and its importance for protein targeting and function have led to the development of recombinant enzyme-replacement regimens for a number of human lysosomal storage ...
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Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
Pediatrics, 2008Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and ...
Rick, Martin +6 more
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Central Corneal Thickness in Mucopolysaccharidosis II and VI
Cornea, 2010To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection.Twenty-eight patients with MPS (19 MPS II, nine MPS VI) underwent pachymetric investigation of CCT. Additionally, ultrasound measurements of axial length
Ulrike, Kottler +4 more
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Peripheral Nerve Involvement in Hunter Syndrome (Mucopolysaccharidosis II)
Archives of Neurology, 1976A 20-year-old man with confirmed Hunter syndrome had entrapments of median and ulnar nerves. Sural nerve biopsy specimen revealed clear, lamellated, and granular inclusions in Schwann cells, fibroblasts, and perineurial cells. The clear inclusions are believed to represent storage of mucopolysaccharide, and the zebra bodies, ganglioside.
T R, Swift, T F, McDonald
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UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II
Acta Paediatrica, 2007Michael, Beck, Ed, Wraith
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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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