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

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Mucolipidoses - 새창 A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Synonyms : Deficiency Disease, Ganglioside Sialidase, Inclusion Cell Disease, Mucolipidosis I, Mucolipidosis II, Mucolipidosis III, Mucolipidosis IV, Mucolipidosis Type I, Mucolipidosis Type II, Mucolipidosis Type III, Mucolipidosis Type IV, Psuedo-Hurler Disease