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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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Psychosocial problems in Hunter's syndrome
Child: Care, Health and Development, 1981Summary During a national study of Hunter's syndrome, visits were made to 33 sets of parents who had had a total of 44 affected sons, 27 with the severe, and 17 with the mild, form of the disease. Information about the behavioural pattern in a further 22 boys was obtained from hospital records.
I D, Young, P S, Harper
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Heterozygote detection in hunter syndrome
American Journal of Medical Genetics, 1984AbstractIduronate sulfate sulfatase activity was determined in 36 women, relatives of Hunter syndrome patients. The use of serum and lymphocyte extracts for the determination of enzyme levels enabled the detection of 13 out of 15 (86%) obligate heterozygotes and identification of 10 of 21 other relatives as carriers. These methods are relatively simple
J, Zlotogora, G, Bach
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Prenatal diagnosis of hunter syndrome
Prenatal Diagnosis, 1984AbstractSixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2‐sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels
I M, Archer, H M, Kingston, P S, Harper
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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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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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