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

KMLE 웹 용어 맞춤 검색 결과 : 1 페이지: 1

fucosidosis	a lysosomal storage disease caused by defective α-L-fucosidase and accumulation of fucose-containing glycoconjugates. Clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. There are two clinical types based on age of onset: Type I, the fatal infantile type, has age of onset by 18 months and causes death before six years of age. Marked increase of sodium chloride in sweat is an additional feature. Type II, the juvenile form, has age of onset by four years of age and slower psychomotor and neurologic deterioration; patients survive to their twenties. 출처: www.mercksource.com/pp/us/cns/cns_health_library.j...

fucosidosis

a lysosomal storage disease caused by defective α-L-fucosidase and accumulation of fucose-containing glycoconjugates. Clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. There are two clinical types based on age of onset: Type I, the fatal infantile type, has age of onset by 18 months and causes death before six years of age. Marked increase of sodium chloride in sweat is an additional feature. Type II, the juvenile form, has age of onset by four years of age and slower psychomotor and neurologic deterioration; patients survive to their twenties.

출처: www.mercksource.com/pp/us/cns/cns_health_library.j...