I-cell : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

CancerWEB 영영 의학사전 맞춤 검색 결과 : 2 페이지: 1

I-cell	A cultured skin fibroblast containing membrane-bound inclusions; characteristic of mucolipidosis II. See: immunocyte. Synonym: inclusion cell. (05 Mar 2000)
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

A cultured skin fibroblast containing membrane-bound inclusions; characteristic of mucolipidosis II.
See: immunocyte.
Synonym: inclusion cell.
(05 Mar 2000)

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)