| SD | Sandhoff disease; senile dementia; septal defect; serologically defined; serologically detectable; s... |
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| Sandhoff's disease | An infantile form of GM2 gangliosidosis characterised by a defect in the production of hexosaminidases A and B; it resembles Tay-Sachs disease, but occurs predominantly (if not entirely) in non-Jewish children; accumulation of glucoside and ganglioside Gm2. (05 Mar 2000) |
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| sandhoff disease | A variant of tay-sachs disease. It is caused by a deficiency of hexosaminidases a & b inherited as an autosomal recessive trait, leading to accumulation of g(m2) ganglioside and the sphingolipid globoside in neurons. The diseases manifests clinically as psychomotor retardation and deterioration, blindness, cherry red spot in the macula, hepatosplenomegaly, and death in 1-3 years. (12 Dec 1998) |
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| Sandhoff, K | <person> Contemporary German biochemist. See: Sandhoff's disease. (05 Mar 2000) |
| Sandhoff's disease |
A neurodegenerative metabolic disorder that is characterized by symptoms and findings similar to those associated with Tay-Sachs disease as well as possible, moderate enlargement of the liver and spleen (hepatosplenomegaly). Sandhoff's disease is a lysosomal storage disease in which deficiency of the enzymes hexosaminidase A and B results in an abnormal accumulation of certain fats (ie, gangliosides) in particular tissues of the body. ...
출처: www.dbs-stn.org/glossary4.asp
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| Sandhoff's d. |
a type of GM2 gangliosidosis (variant 0, or type II) with clinical features similar to Tay-Sachs disease and other forms of the B variant of GM2 gangliosidosis but distinguished by the presence of stored or excreted N-acetylglucosamine-containing oligosaccharides, occasional organomegaly, and occurrence only in non-Jews. The underlying defect is deficiency of both hexosaminidase A and B isozymes due to a defect in the β chain of the enzyme. It occurs as several forms (infantile, juvenile, and adult), decreasing in severity with increasing age of 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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