D. R. Shagieva, R. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. Musin
{"title":"Gaucher disease type 2 (case report)","authors":"D. R. Shagieva, R. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. Musin","doi":"10.17650/2073-8803-2020-15-2-60-64","DOIUrl":null,"url":null,"abstract":"The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"93 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Journal of Child Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17650/2073-8803-2020-15-2-60-64","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
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
