| Hurler's disease |
Hurler's syndrome: hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
출처: wordnet.princeton.edu/perl/webwn
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| Hurler's syndrome |
hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
출처: wordnet.princeton.edu/perl/webwn
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| Hurler's d. |
see under syndrome.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Hurler's s. |
the prototype of the mucopolysaccharidoses, and the gravest of the three allelic disorders of mucopolysaccharidosis I, specifically marked by corneal clouding and death by age 10. It is caused by deficiency of L-iduronidase, and onset is after the first year with progressive physical and mental deterioration. Further symptoms include gargoyle-like facies with hypertelorism, depressed nasal bridge, large tongue, and widely spaced teeth; dwarfism; severe somatic and skeletal changes, including short neck and trunk, scaphocephaly, and kyphosis with gibbus; short broad hands with short fingers; progressive opacities of the cornea; deafness; cardiovascular defects; hepatosplenomegaly; and joint contractures. Death is usually caused by respiratory infection and heart failure. Called also mucopolysaccharidosis IH.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Hurler's syndrome (disease) |
see under syndrome.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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