{"title":"Fabry疾病。","authors":"Mark Levin","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure. Preclinical and clinical studies demonstrate effectiveness of enzyme infusion in controlling and preventing these manifestations of the disease.</p>","PeriodicalId":87159,"journal":{"name":"Timely topics in medicine. Cardiovascular diseases","volume":"10 ","pages":"E8"},"PeriodicalIF":0.0000,"publicationDate":"2006-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Fabry disease.\",\"authors\":\"Mark Levin\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure. Preclinical and clinical studies demonstrate effectiveness of enzyme infusion in controlling and preventing these manifestations of the disease.</p>\",\"PeriodicalId\":87159,\"journal\":{\"name\":\"Timely topics in medicine. Cardiovascular diseases\",\"volume\":\"10 \",\"pages\":\"E8\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Timely topics in medicine. Cardiovascular diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Timely topics in medicine. Cardiovascular diseases","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure. Preclinical and clinical studies demonstrate effectiveness of enzyme infusion in controlling and preventing these manifestations of the disease.
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