| 영문 | mucopolysaccharidosis | 한글 | 점액다당류증 |
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| 설명 | 점액다당류대사 결손을 원인으로 하며 점액다당류의 광범한 조직내 침착과 오줌중의 과잉배설을 동반하는 골격변화, 정신지체, 내장침습 및 각막혼탁을 특징으로 하는 유전적 질환의 총칭. 헐러(Hurler) 증후군은 본 병의 기본형이다. 연골 원기, 성장판, 갈비뼈의 연골 및 관절의 연골 등에 점액다당이 축적되어 길이성장의 장애로 단신, 가슴벽 이상 또는 기형뼈 등이 나타난다. |
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| ECG | Electro-Cardio-Graphy(-Gram); 심전도 = EKG 1. Conducting System Structu... |
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| VIIag | factor VII antigen |
| MPS | 1) Mononuclear Phagocyte System 2) Mucopolysaccharidosis; Muco 다당류 축적 질환... |
| MPS | meconium plug syndrome; medial premotor system; Member of the Pharmaceutical Society; microbial prof... |
| MPSoSIS | mucopolysaccharidosis |
| MPS VII | Mucopolysaccharidosis Type VII |
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| Endo VII | Endonuclease VII |
| F VII:Ag | F VII antigen |
| F VII | Factor VII |
| F VII:C | Factor VII activity |
| mucopolysaccharidosis vii | Mucopolysaccharidosis characterised by excessive dermatan and heparan sulfates in the urine and hurler-like features. It is caused by a deficiency of beta-glucuronidase. (12 Dec 1998) |
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| type VII 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) |
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| annexin vii | Protein of the annexin family that promotes the aggregation and fusion of chromaffin granules and can also act as a voltage-dependent calcium channel. (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) |
| cranial mononeuropathy vii | A disorder which involves drooping of the face and the decreased ability to move one side of the face. Causes include isolated damage to the facial nerve, HIV infection, sarcoidosis and Lyme disease. Bell's palsy is a dysfunction of the facial nerve for reason unknown. (27 Sep 1997) |
| cranial nerve VII | <anatomy, nerve> The facial nerve enervates the muscles of the face (facial expression). Lesion of the facial nerve cause a drooping to one side of the face, inability to wrinkle the forehead, inability to whistle, inability to close the eye and deviation of the mouth to the unaffected side. Synonym: cranial nerve VII. (27 Sep 1997) |
| exonuclease vii | An exonuclease enzyme which makes oligonucleotides by cleaving chunks of nucleotides off of both ends of single-stranded DNA. (09 Oct 1997) |
| factor vii | <chemical> Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor viia in the extrinsic pathway of blood coagulation. The activated form then catalyses the activation of factor x to factor xa. Chemical name: Blood-coagulation factor VII (12 Dec 1998) |
| factor vii assay | A test used to measure the activity of a blood clotting factor VII. This test may be used to evaluate excessive bleeding. Abnormally low factor VII assays may be seen in the following conditions: congenital deficiency of factor VII, fat malabsorption, heparin administration, cirrhosis, vitamin K deficiency and warfarin administration. (27 Sep 1997) |
| factor vii deficiency | An inherited disorder that causes abnormal blood clotting due to the congenital absence of one of the 20 different plasma proteins involved in the coagulation process. Symptoms include bleeding of the gums, nosebleeds, easy bruising, bleeding in muscles or joints and excessive menstrual bleeding. Treatment includes the administration of plasma concentrates of factor VII (extrinsic factor). (27 Sep 1997) |
| mucopolysaccharidosis | Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, and connective tissue. (05 Mar 2000) |
| mucopolysaccharidosis I | Systemic lysosomal storage disease caused by a deficiency of alpha-l-iduronidase and characterised by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognised phenotypes representing a spectrum of clinical severity from severe to mild: hurler's syndrome, hurler-scheie syndrome and scheie's syndrome (formerly mucopolysaccharidosis v). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. (12 Dec 1998) |
| mucopolysaccharidosis II | Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of l-sulfoiduronate sulfatase. This disease differs from mucopolysaccharidosis I by slower progression, lack of corneal clouding, and x-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. (12 Dec 1998) |
| mucopolysaccharidosis III | Mucopolysaccharidosis characterised by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. (12 Dec 1998) |
| mucopolysaccharidosis IV | Genetic disorder of mucopolysaccharide metabolism characterised by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. (12 Dec 1998) |
| mucopolysaccharidosis vi | Mucopolysaccharidosis with excessive chondroitin sulfate b in urine, characterised by dwarfism and deafness. It is caused by a deficiency of n-acetylgalactosamine-4-sulfatase (arylsulfatase b). (12 Dec 1998) |
Synonyms : Mucopolysaccharidosis 7, Sly Disease, Disease, Sly, Mucopolysaccharidosis VIIs, Syndrome, Sly, VIIs, Mucopolysaccharidosis
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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