Gaucher Disease : 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

Gaucher Disease - 새창 An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the RETICULOENDOTHELIAL SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Synonyms : Acid beta-Glucosidase Deficiency Disease, Acute Neuronopathic Gaucher Disease, Chronic Gaucher Disease, Gaucher Disease, Acute Neuronopathic, Gaucher Disease, Chronic, Gaucher Disease, Infantile, Gaucher Disease, Juvenile, Gaucher Disease, Neuronopathic