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| ¿µ¹® | infectious disease | ÇÑ±Û | °¨¿°º´ |
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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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| ECG | Electro-Cardio-Graphy(-Gram); ½ÉÀüµµ = EKG 1. Conducting System Structu... |
|---|---|
| JVP | [POMD P 49 - 52] 1) Jugular Vein Pressure 2) Jugular Venous Pulse ... |
| AT III | angiotensin III; antithrombin III |
| GSD | genetically significant dose; Gerstmann-Straussler disease; glutathione synthetase deficiency; glyco... |
| PMD | Progressive Muscular Dystrophy; ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ Types of PMD(Progressive Muscular Dystroph... |
| GSD III | Glycogen storage disease type III |
|---|---|
| GSDII | Glycogen Storage Disease type II |
| GSD 1a | Glycogen storage disease type 1a |
| GSD Ia | Glycogen storage disease type Ia |
| GSD I | Glycogen storage diseases type I |
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| 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) |
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| 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) |
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| 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 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) |
| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| 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) |
| protoporphyrinogen type III | The immediate precursor of protoporphyrin III in haem biosynthesis; elevated in cases of variegate porphyria. (05 Mar 2000) |
| protoporphyrinogen type III oxidase | A mitochondrial enzyme that uses O2 to convert protoporphyrinogen type III to protoporphyrin type III in haem biosynthesis; a deficiency of this enzyme is associated with variegate porphyria. (05 Mar 2000) |
| protoporphyrin type III | 2,7,12,18-Tetramethyl-3,8-divinylporphin-13,17dipropionic acid;the principal protoporphyrin found in nature (one of 15 possible isomers), characterised by the presence of 4 methyl groups, 2 vinyl groups, and 2 propionic acid side chains; a porphyrin derivative that, with iron, forms the haem of haemoglobin and the prosthetic groups of myoglobin, catalase, cytochromes, etc. (05 Mar 2000) |
| hyperlipoproteinaemia type III | A rather uncommon form of familial hyperlipaemia characterised by the presence of lipoproteins of abnormal composition. The main abnormal lipoproteins are called beta-vldl and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal vldl. (12 Dec 1998) |
| deoxyribonucleases, type III site-specific | <enzyme> Enzyme systems composed of two subunits and requiring ATP and magnesium for endonucleolytic activity; they do not function as atpases. They exist as complexes with modification methylases of similar specificity. The systems recognise specific short DNA sequences and cleave a short distance, about 24 to 27 bases, away from the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. Registry number: EC 3.1.21.5 (12 Dec 1998) |
| type III acrocephalosyndactyly | An autosomal dominant syndrome with variable expression of brachycephaly, maxillary hypoplasia, prominent ear crus, syndactyly, facial asymmetry, shallow orbits, telecanthus, and nasal septal deviation; may show mental retardation. Synonym: Saethre-Chotzen syndrome. (05 Mar 2000) |
Synonyms : Cori Disease, Deficiency, Debrancher, Coris Disease, Debrancher Deficiencies, Deficiencies, Debrancher, Dextrinoses, Limit, Dextrinosis, Limit, Disease, Cori, Disease, Cori's, Disease, Forbes, Limit Dextrinoses
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