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1996
Hunter’s syndrome is an example of a defect in the metabolism of the complex sugars — the mucopolysaccharides. There are a number of syndromes in this group, and in each there is lack of a specific enzyme which controls the metabolism of these nutrients (Other syndromes include Hurler’s syndrome, Morquio’s syndrome and San Filippo syndrome.) Around one
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Hunter’s syndrome is an example of a defect in the metabolism of the complex sugars — the mucopolysaccharides. There are a number of syndromes in this group, and in each there is lack of a specific enzyme which controls the metabolism of these nutrients (Other syndromes include Hurler’s syndrome, Morquio’s syndrome and San Filippo syndrome.) Around one
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Multidisciplinary Management of Hunter Syndrome
Pediatrics, 2009Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome.
MUENZER J +20 more
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Carrier detection in Hunter syndrome
American Journal of Medical Genetics, 1983AbstractWe have studied the carrier state of the Hunter syndrome using a series of obligate carriers, females at high genetics risk, and normal control women. Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2‐sulphate sulphatase activity.
I M, Archer +5 more
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Cerebral infarction in Hunter syndrome
Journal of Clinical Neuroscience, 2006Hunter syndrome, or mucopolysaccharidosis type II, is an X-linked recessive disorder resulting from iduronate sulfatase deficiency. Typical manifestations include short stature, mental retardation, hydrocephalus, macroglossia and cardiac valvulopathy.
John, Neely +4 more
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The Hurler and Hunter syndromes
The American Journal of Medicine, 1969Abstract Since the demonstration that acid mucopolysaccharides accumulate in tissue and urines of patients with the Hurler and Hunter syndromes, other mucopolysaccharidoses have been described. Some lipid storage diseases have also been shown to have an increase in acid mucopolysaccharide with the lipid material stored.
A, Dorfman, R, Matalon
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New England Journal of Medicine, 1969
Abstract Deficient activity of beta galactosidase was found in the skin of two siblings with Hunter's syndrome and their mother, a carrier of the sex-linked disorder.
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Abstract Deficient activity of beta galactosidase was found in the skin of two siblings with Hunter's syndrome and their mother, a carrier of the sex-linked disorder.
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Hunters syndrom og hørenedsættelse
Ugeskrift for Læger, 2010A 30 month-old boy with delayed language development was referred to the Department of Audiology in Aarhus. At the time of referral he had had 19 cases of acute otitis media and had been tubulated four times. Furthermore, the boy had not developed according to age in several respects: his motor functions and language were delayed, and he made audible ...
Kiaer, Eva Kirkegaard +2 more
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