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  • Gaucher cell
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  • gaucher cells
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  • gauchers disease
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  • Gaucher's disease
    °í¿À¼Å Áúȯ(òðü´)
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GD gastroduodenal; Gaucher disease; general diagnostics; general dispensary; gestational day; Gianotti ...
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GD Gaucher disease
CancerWEB ¿µ¿µ ÀÇÇлçÀü ¸ÂÃã °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
Gaucher's disease <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.
Inheritance: autosomal recessive.
(27 Sep 1997)
gaucher's disease, type 1 A progressive genetic disease caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States.
(12 Dec 1998)
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 6 ÆäÀÌÁö: 1
Gaucher cells Large, finely and uniformly vacuolated cell's derived from the reticuloendothelial system, and found especially in the spleen, lymph nodes, liver, and bone marrow of patients with Gaucher's disease; Gaucher cell's contain kerasin (a cerebroside), which accumulates as a result of a genetically determined absence of the enzyme glucosylceramidase.
(05 Mar 2000)
gaucher disease <radiology> Cerebroside lipidosis, autosomal recessive, abnormal accumulation of glucocerebroside, RE system: liver, spleen, lymph nodes, CNS neurons, skeletal disorders, avascular necrosis, Erlenmeyer flask deformity, resorption of trabeculae, lytic/sclerotic changes, hepatosplenomegaly Cf: Niemann-Pick disease
(12 Dec 1998)
Gaucher disorder <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction.
Inheritance: autosomal recessive.
(27 Sep 1997)
Gaucher, Philippe <person> French physician, 1854-1918.
See: Gaucher cells, Gaucher's disease, pseudo-Gaucher cell.
(05 Mar 2000)
pseudo-Gaucher cell A plasma cell, microscopically resembling a Gaucher cell, found in the bone marrow in some cases of multiple myeloma.
(05 Mar 2000)
disease, gaucher's type 1 A progressive genetic disease caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States.
(12 Dec 1998)
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Gaucher's disease a rare chronic disorder of lipid metabolism of genetic origin
Ãâó: wordnet.princeton.edu/perl/webwn
Gaucher's disease a genetic disorder in which lipids cannot be properly broken down and build up in certain cells; causes enlargement of the spleen and liver, bone damage, and anemia
Ãâó: www.american-depot.com/services/resources_gl_g.asp
Gaucher's disease Deficiency of acid glucosidase. Glucosyl ceramide accumulates in the reticuloendothelial cells in bone marrow, spleen and lymph nodes and may cause polyarthralgia and osteonecrosis of the hip.
Ãâó: www.ilar.org/Glossary/Glossary_g.htm
Gaucher's d. a lipidosis caused by deficient glucocerebrosidase (glucosylceramidase), with glucocerebroside (glucosylceramide) accumulation in Gaucher cells, storage cells in the liver, spleen, lymph nodes, alveolar capillaries, and bone marrow. There are three clinical types: type 1, called also chronic non-neuronopathic or “adult” type, may appear at any age and is associated with hypersplenism, thrombocytopenia, anemia, jaundice, and bone lesions; type 2, called also acute neuronopathic or “infantile” type, is associated with onset in infancy, hepatosplenomegaly, severe impairment of the central nervous system, and death usually within the first year; and type 3, called also subacute neuronopathic or “juvenile” type, is the most varied, having the same clinical features as types 1 and 2 but a longer course. Called also glucosylceramide lipidosis.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Gaucher's s. see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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gaucher\'s a rare chronic disorder of lipid metabolism of genetic origin
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