| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
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| 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 |
| NF | Neuro-Fibromatosis = Von Recklinghausen's Disease NF 1; Neuro-Fibroma... |
| exonuclease vii | An exonuclease enzyme which makes oligonucleotides by cleaving chunks of nucleotides off of both ends of single-stranded DNA. (09 Oct 1997) |
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| 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) |
| acrocephalosyndactyly type 1 | <paediatrics> An inherited disease (autosomal dominant) or a spontaneously occurring disease characterised by a peaked head and unusual facial appearance, due to the premature closure of the cranial sutures. A skull X-ray can confirm the diagnosis and treatment is surgical. Inheritance: autosomal dominant. (27 Sep 1997) |
| Alzheimer type I astrocyte | Enlarged frequently multinucleated astrocytes, seen in progressive multifocal leukoencephalopathy. (05 Mar 2000) |
| Alzheimer type II astrocyte | Enlarged astrocytes with vesicular nuclei and one or more small basophilic nucleoli, seen in hepatocerebral disease and Wilson's disease. (05 Mar 2000) |
| American Type Culture Collection | <cell culture> A key resource for cultured cells, located in Rockville, USA. (12 Dec 1998) |
| Antoni type A neurilemoma | <tumour> Relatively solid or compact arrangement of neoplastic tissue that consists of Schwann cells arranged in twisting bundles and associated with delicate reticulin fibres; the nuclei of the Schwann cells are frequently grouped in parallel rows (so-called palisades), and the nuclei and fibres sometimes form exaggerated tactile corpuscles, called Verocay bodies. (05 Mar 2000) |