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  • gaucher cells
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  • Gaucher's disease
    °í¿À¼Å Áúȯ(òðü´)
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AR   1) Aortic Regurgitation
    = AI
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GD gastroduodenal; Gaucher disease; general diagnostics; general dispensary; gestational day; Gianotti ...
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GD Gaucher disease
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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'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)
Gaucher, Philippe <person> French physician, 1854-1918.
See: Gaucher cells, Gaucher's disease, pseudo-Gaucher cell.
(05 Mar 2000)
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
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)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Gaucher Disease - »õâ An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the RETICULOENDOTHELIAL SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
    Synonyms : Acid beta-Glucosidase Deficiency Disease, Acute Neuronopathic Gaucher Disease, Chronic Gaucher Disease, Gaucher Disease, Acute Neuronopathic, Gaucher Disease, Chronic, Gaucher Disease, Infantile, Gaucher Disease, Juvenile, Gaucher Disease, Neuronopathic
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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 c. a large and distinctive cell characteristic of Gaucher's disease, with one or more eccentrically placed nuclei and with fine wavy kerasin fibrils running parallel to the long axis of the cell, imparting a wrinkled, tissue-paper appearance to the gray or bluish opaque cytoplasm.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Gaucher cells, disease (splenomegaly) see under cell and disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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Gaucher a rare chronic disorder of lipid metabolism of genetic origin
Gaucher a socially awkward or tactless act
Gaucher the quality of being rustic or gauche
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