muco : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 5 페이지: 2

Mucopolysaccharidoses - 새창 Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Synonyms : Mucopolysaccharidosis
Mucopolysaccharidosis I - 새창 Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized 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. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
Synonyms : Gargoylism, Hurler Syndrome, Hurler Disease, Hurler's Disease, MPS I H, MPS I H-S, MPS I S, MPS I-S, Mucopolysaccharidosis 1, Mucopolysaccharidosis 5, Mucopolysaccharidosis I-S, Mucopolysaccharidosis IS, Scheie Syndrome, Disease, Hurler, Disease, Hurler's, MPS I H S
Mucopolysaccharidosis II - 새창 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.
Synonyms : Hunter Syndrome Gargoylism, Mucopolysaccharidosis 2, Gargoylisms, Hunter Syndrome, Hunter Syndrome, Hunter Syndrome Gargoylisms, Hunters Syndrome, IIs, Mucopolysaccharidosis, Mucopolysaccharidosis IIs, Syndrome, Hunter's
Mucopolysaccharidosis III - 새창 Mucopolysaccharidosis characterized 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.
Synonyms : MPS III A, MPS III B, MPS III C, MPS III D, Mucopolysaccharidosis 3, San Filippo's Syndrome, IIIs, Mucopolysaccharidosis, Mucopolysaccharidosis IIIs, Oligophrenia, Polydystrophic, Oligophrenias, Polydystrophic, Polydystrophic Oligophrenias, San Filippo Syndrome
Mucopolysaccharidosis IV - 새창 Genetic disorder of mucopolysaccharide metabolism characterized 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.
Synonyms : Eccentroosteochondrodysplasia, MPS IV A, MPS IV B, Morquio Disease, Morquio's Syndrome, Mucopolysaccharidosis 4, Disease, Morquio, Disease, Morquio's, Eccentro Osteochondrodysplasia, Eccentro-Osteochondrodysplasias, Eccentroosteochondrodysplasias