S. Hamwi, Huda Ali Mohamed, Abdulqader Jalani Al Zubaidi, Alaa Sattar Mehair, Amar Al Shibli
{"title":"Gaucher Disease in a 15-month-Old Child: A Case Report and Literature Review","authors":"S. Hamwi, Huda Ali Mohamed, Abdulqader Jalani Al Zubaidi, Alaa Sattar Mehair, Amar Al Shibli","doi":"10.33582/mppchc.2022.202207001","DOIUrl":null,"url":null,"abstract":"Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system and accumulation of glucosylceramide in different organs as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase).","PeriodicalId":214880,"journal":{"name":"MedPress Pediatrics and Child Health Care","volume":"10 1 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"MedPress Pediatrics and Child Health Care","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33582/mppchc.2022.202207001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system and accumulation of glucosylceramide in different organs as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase).
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
