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

polydystrophy	A condition characterised by the presence of many congenital anomalies of the connective tissues. Origin: poly-+ dystrophy (05 Mar 2000)

CancerWEB 영영 의학사전 유사 검색 결과 : 1 페이지: 1

pseudo-Hurler polydystrophy	<biochemistry> Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip. Aortic and mitral valve disease are often present. It is associated with a deficiency of UDP-N-acetyl glucosamine and lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase. Inheritance: autosomal recessive. Synonym: pseudo-Hurler polydystrophy, pseudopolydystrophy. (05 Mar 2000)

pseudo-Hurler polydystrophy

<biochemistry> Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip. Aortic and mitral valve disease are often present.
It is associated with a deficiency of UDP-N-acetyl glucosamine and lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase.
Inheritance: autosomal recessive.
Synonym: pseudo-Hurler polydystrophy, pseudopolydystrophy.
(05 Mar 2000)