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

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1

Xanthomatosis - 새창 A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
Synonyms : Xanthomas, Xanthomatoses
Xanthomatosis, Cerebrotendinous - 새창 An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Synonyms : Cerebrotendinous Xanthomatosis, Bogaert-Scherer-Epstein Disease, Van, Cerebrotendinous Xanthomatoses, Disease, Van Bogaert-Scherer-Epstein, Van Bogaert Scherer Epstein Disease, Xanthomatoses, Cerebrotendinous