| Maroteaux, Pierre | <person> French medical geneticist, *1926. See: Maroteaux-Lamy syndrome. (05 Mar 2000) |
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| Maroteaux-Lamy syndrome | <biochemistry, syndrome> An error of mucopolysaccharide metabolism due to deficiency of the lysosomal enzyme arylsulphatase B. It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation. Onset occurs after two years of age. Inheritance: autosomal recessive. Synonym: polydystrophic dwarfism, mucopolysaccharidosis type VI. (05 Mar 2000) |
| Maroteaux-Lamy syndrome |
Another name for mucopolysaccharidosis VI (MPS VI). The term Maroteaux-Lamy syndrome comes from the names of the two French scientists who first discovered MPS VI in 1963.
출처: www.maroteaux-lamy.com/pc/about/Glossary.asp
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| Maroteaux-Lamy s. |
a mucopolysaccharidosis caused by deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), and characterized biochemically by the predominance of dermatan sulfate in the urine and the presence of coarse metachromatic granules in the leukocytes, and clinically by Hurler-like signs with normal intelligence. There are three clinical forms: the severe or classic form shows Hurler-like symptoms; the intermediate form has the same phenotype as mucolipidosis III (pseudo-Hurler polydystrophy); the mild form is difficult to distinguish from the Scheie syndrome. Called also mucopolysaccharidosis VI and arylsulfatase B (ARSB) deficiency.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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