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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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| ECG | Electro-Cardio-Graphy(-Gram); ½ÉÀüµµ = EKG 1. Conducting System Structu... |
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| 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-0 | glycogen storage disease-zero |
| GT1-GT10 | glycogen storage disease, types 1 to 10 |
| GSDII | Glycogen Storage Disease type II |
|---|---|
| GSD 1a | Glycogen storage disease type 1a |
| GSD III | Glycogen storage disease type III |
| GSD Ia | Glycogen storage disease type Ia |
| GSD I | Glycogen storage diseases type I |
Kugelberg-Welander disease ±Ù À§ÃàÁõÀÇ À¯Àü¼º ¿¬¼ÒÇüÀ¸·Î¼ º¸Åë »ó¿°»öü¼º ¿¼º ÇüÁú·Î À¯ÀüµÈ´Ù. ô¼ö Àü°¢ÀÇ º´º¯ÀÌ ±× ¿øÀÎÀÌ´Ù.
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| 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) |
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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 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) |
| 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) |
| type VIII mucopolysaccharidosis | <syndrome> An autosomal recessive disorder due to a deficiency of a beta-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues. Synonym: type VII mucopolysaccharidosis, type VIII mucopolysaccharidosis. (05 Mar 2000) |
| cochlear root of VIII nerve | <anatomy, nerve> One of the components of the vestibulocochlear nerve; it is made up of the central processes of the bipolar neurons which compose the spiral (cochlear) ganglion in the spiral canal of the modiolus of the bony cochlea; the cochlear root enters the cranial cavity by passing in fascicles through the spiral foraminous tract at the bottom of the internal auditory meatus; it enters the brainstem through the pontomedullary groove, closely adhering to the caudoventral aspect of the vestibular root, and distributes its fibres to the ventral and dorsal cochlear nuclei in the floor of the lateral recess of the fourth ventricle. Synonym: radix cochlearis, cochlear root of vestibulocochlear nerve, inferior root of vestibulocochlear nerve, radix inferior nervi vestibulocochlearis. (05 Mar 2000) |
| cranial nerve VIII | <anatomy, nerve> The vestibulocochlear nerve is responsible for the sense of hearing and balance (body position sense). Lesions of the eighth nerve can result in deafness, tinnitus, dizziness, vertigo and vomiting. Synonym: cranial nerve VIII. (27 Sep 1997) |
| serum factor VIII antigen | A test used to measure the activity of a blood clotting factor VIII (Von Willebrand factor). This test is usually used to monitor treatment of haemophilia. Abnormally low factor VIII assays may be seen in the following conditions: congenital deficiency of factor VIII (haemophilia), DIC and secondary fibrinolysis. This test may also be performed in the evaluation of Von Willebrand's disease. (27 Sep 1997) |
| factor viii | A coagulation (clotting) factor. Classic haemophilia (haemophilia A) is due to a congenital deficiency in the amount (or activity) of factor VIII. Factor VIII is also known as antihemophiliac factor (AHF) or antihemophiliac globulin (AHG). The gene for factor VIII (that for classic haemophilia) is on the X chromosome so females can be silent carriers without symptoms and males can be haemophiliacs. (12 Dec 1998) |
| factor viii assay | A test used to measure the activity of a blood clotting factor VIII (Von Willebrand factor). This test is usually used to monitor treatment of haemophilia. Abnormally low factor VIII assays may be seen in the following conditions: congenital deficiency of factor VIII (haemophilia), DIC and secondary fibrinolysis. This test may also be performed in the evaluation of Von Willebrand's disease. (27 Sep 1997) |
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