Results 211 to 220 of about 30,229 (249)
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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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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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Idursulfase in Hunter syndrome treatment
Drugs of Today, 2007Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the deficiency of enzyme iduronate-2-sulfatase (I2S), which results in accumulation of undegraded dermatan and heparan sulfate in various tissues and organs. Enzyme replacement therapy with Elaprase (idursulfase, a recently approved orphan product)
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Hunter Syndrome and Bullʼs Eye Maculopathy
Klinische Monatsblätter für AugenheilkundeMucopolysaccharidoses (MPSs) refer to a heterogeneous group of lysosomal storage disorders affecting the breakdown of glycosaminoglycans (GAGs), polysaccharide compounds involved in cell signaling and other biochemical processes [1]. The diseases, caused by genetic defects, result in multiorgan intra- and extracellular accumulation of the mentioned ...
Said, Sadiq +8 more
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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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Subcortical infarction in a young adult with Hunter syndrome
Brain and Development, 2022Yoshiteru Azuma +2 more
exaly
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
Genetics in Medicine, 2011David Whiteman +2 more
exaly