| AR | 1) Aortic Regurgitation = AI Echo소견 &... |
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| HS | Haber syndrome; half strength; hamstring; hand surgery; Hartmann solution; head sling; healthy subje... |
| Hurler's disease | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
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| Hurler's syndrome | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
| Pfaundler-Hurler syndrome | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
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| pseudo-Hurler disease | infantile, generalised GM1 gangliosidosis |
| pseudo-Hurler polydystrophy | <biochemistry> Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip. Aortic and mitral valve disease are often present. It is associated with a deficiency of UDP-N-acetyl glucosamine and lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase. Inheritance: autosomal recessive. Synonym: pseudo-Hurler polydystrophy, pseudopolydystrophy. (05 Mar 2000) |
| Hurler | Gertrud, Austrian paediatrician, 1889-1965. See: Hurler's disease, Hurler's syndrome, Pfaundler-Hurler syndrome. (05 Mar 2000) |
| Hurler-Scheie syndrome | <syndrome> Although clinically distinct diseases, fibroblasts from patients with Hurler syndrome and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same. (18 Nov 1997) |
| Hurler syndrome | <syndrome> A hereditary metabolic disorder, also designated mucopolysaccharidosis I, is caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage. It is characterised by coarse facies, corneal clouding, skeletal dysplasia, hepatosplenomegaly, hernias, mental retardation and early death. There are mild and severe forms of the syndrome, the mild form is called Scheie Syndrome, the severe form is called Hurler syndrome, and children with an intermediate form have Hurler-Scheie syndrome. Patients with the severe form usually die from respiratory and cardiac failure before the age of ten. There is presently no cure. Hurler syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter syndrome. Diagnosis is possible by observing storage material in tissues, excretion of dermatan sulfate and heparan sulfate in urine, and deficient alpha-L-iduronidase activity in fibroblasts, amniocytes or other cell types. Missense and other mutations, one of which is relatively common, have been identified in the gene. Inheritance: autosomal recessive. (29 Dec 1997) |
| syndrome, hurler | A genetic error of metabolism. There is incomplete breakdown and accumulation of a substance (a mucopolysaccharide) which is abnormally stored in the brain and other places. This usually leads to death of the individual with hurler syndrome by their early teen years. See gargoylism. (12 Dec 1998) |
| 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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| hurler\'s | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
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| hurler\'s | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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