MUC : 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: 3

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
Mucopolysaccharidosis VI - 새창 Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Synonyms : Mucopolysaccharidosis 6, Dwarfism, Polydystrophic, Maroteaux Lamy Syndrome, Mucopolysaccharidosis VIs, Syndrome, Maroteaux-Lamy, VIs, Mucopolysaccharidosis
Mucopolysaccharidosis VII - 새창 Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Synonyms : Mucopolysaccharidosis 7, Sly Disease, Disease, Sly, Mucopolysaccharidosis VIIs, Syndrome, Sly, VIIs, Mucopolysaccharidosis