| ¿µ¹® | infectious disease | ÇÑ±Û | °¨¿°º´ |
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| ¿µ¹® | hypertensive heart disease | ÇÑ±Û | °íÇ÷¾Ð½ÉÀ庴 |
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| ¿µ¹® | pelvic inflammatory disease | ÇÑ±Û | °ñ¹Ý¿°Áúȯ |
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| ¿µ¹® | Graves' disease | ÇÑ±Û | ±×·¹À̺꽺º´ |
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| ¿µ¹® | Raynaud disease | ÇÑ±Û | ·¹À̳뺴 |
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| CD | cadaver donor; canine distemper; canine dose; carbohydrate dehydratase; carbon dioxide; cardiac dise... |
|---|---|
| HD | Haab-Dimmer [syndrome]; Hajna-Damon [broth]; Hansen disease; hearing distance; heart disease; helix ... |
| MD | Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major... |
| LAL | left axillary line; Limulus amebocyte lysate; low air loss; lysosomal acid lipase |
| AD | accident dispensary; acetate dialysis; active disease; acute dermatomyositis; addict, addiction; ade... |
| LSD | Lysosomal storage diseases |
|---|---|
| CESD | Cholesterol ester storage disease |
| GSD | Glycogen Storage Disease |
| GSDII | Glycogen Storage Disease type II |
| GSD 1a | Glycogen storage disease type 1a |
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| lysosomal storage diseases | Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates. (12 Dec 1998) |
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| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
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| lysosomal disease | A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease. (05 Mar 2000) |
| UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase | <enzyme> Fibroblasts from patients with i-cell (mucolipidosis II) and pseudo-hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for n-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15 Registry number: EC 2.7.8.17 Synonym: udpgnac gp gnac phosphotransferase, udpgnac phosphotransferase, uridine 5'-diphosphate-n-acetylglucosamine glycoprotein n-acetylglucosaminylphosphotransferase, n-acetylglucosamine-1-phosphotransferase, n-agapt, udp-n-acetylglucosamine-lysosomal glycoprotein n-acetylglucosaminylphosphotransferase, udp-acetylglucosamine-glycoprotein n-acetylglucosamine-1-phosphotransferase (26 Jun 1999) |
| UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase | <enzyme> An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (05 Mar 2000) |
| lysosomal diseases | Diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death. See: the following conditions: Hurler sundrome, Hunter syndrome, San Fillipo, Gaucher's disease, Niemann-Pick, Pompe's disease, Tay Sachs disease. (18 Nov 1997) |
| lysosomal enzyme | <biochemistry> A range of degradative enzymes, most of which operate best at acid pH. The best known marker enzymes are acid phosphatase and glucuronidase, but many others are known. (18 Nov 1997) |
| brancher glycogen storage disease | Type of glycogen storage disease, due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme). Synonym: brancher deficiency glycogenosis, debrancher deficiency. (05 Mar 2000) |
| glycogen storage disease | <hepatology> A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalised storage of glycogen occurs, sometimes with prominent cardiac involvement. Synonym: glycogenosis (12 Sep 2002) |
| glycogen storage disease type I | <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. Inheritance: autosomal recessive. (12 Dec 1998) |
| glycogen storage disease type II | <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs. (12 Dec 1998) |
| glycogen storage disease type III | <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type IV | <disease> An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type V | <disease> Glycogenosis due to muscle phosphorylase deficiency. Characterised by painful cramps following sustained exercise. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VI | <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis. (12 Dec 1998) |
| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
Synonyms : Disease, Lysosomal Storage, Diseases, Lysosomal Storage, Disorder, Lysosomal Enzyme, Disorders, Lysosomal Enzyme, Enzyme Disorder, Lysosomal, Enzyme Disorders, Lysosomal, Lysosomal Enzyme Disorder, Lysosomal Storage Disease
Synonyms : Lysosomal Enzyme Disorders, Nervous System, Nervous System Lysosomal Enzyme Disorders
| lysosomal storage disease |
An inherited disease characterized by a defect in the functional expression of any of the lysosomal enzymes.
Ãâó: www.lsdn.com/glance_glossary.shtml
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| lysosomal storage disease |
A disease caused by deficiency of specific lysosomal enzymes that normally degrade glycoproteins, glycolipids, or mucopolysaccharides. Thus, the substances that cannot be catabolized accumulate in lysosomes. Specific en
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