| I-cell | A cultured skin fibroblast containing membrane-bound inclusions; characteristic of mucolipidosis II. See: immunocyte. Synonym: inclusion cell. (05 Mar 2000) |
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| I-cell disease | <biochemistry> Mucolipidosis of early onset and with severe symptoms like those in Hurler's syndrome but with normal urinary mucopolysaccharides, vacuolated lymphocytes, and inclusion bodies in cultured fibroblasts (I-cells). The lysosomes lack hydrolases but high concentrations of lysosomal enzymes are found in the extracellular fluids such as serum, spinal fluid, and urine. It is associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase. The gene defect responsible probably prevents the addition of the lysosome recognition marker mannose 6 phosphate) to these enzymes so that they are not directed into the lysosomes but are released. Inheritance: autosomal recessive. Synonym: I-cell disease, inclusion cell disease. (12 Jul 2000) |
| I-cell d. |
mucolipidosis II.
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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