| mannosidosis | Inborn error of metabolism marked by a defect in alpha-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. (12 Dec 1998) |
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| mannosidosis |
a lysosomal storage disease due to defective α-mannosidase with resultant oligosaccharide accumulation. Characteristics include coarse facies, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of dysostosis multiplex, and kyphosis. Mannosidosis is divided into type I (infantile onset) and type II (juvenile-adult onset).
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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