D. R. Shagieva, R. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. Musin
{"title":"戈谢病2型(附1例报告)","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":"{\"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}","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}
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.
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