José Pedro L Nunes, Ricardo Soares-Dos-Reis, Maria do Sameiro Faria, Elisabete Martins, Teresa Pinho, João Rebelo, Rute N Fonseca, Martin Balboa López, Susana Ferreira, João Paulo Oliveira
{"title":"半乳糖苷酶α (GLA)基因C .639+5G>C内含子变异半合子的法布里病患者的肾脏、心脏和神经系统疾病","authors":"José Pedro L Nunes, Ricardo Soares-Dos-Reis, Maria do Sameiro Faria, Elisabete Martins, Teresa Pinho, João Rebelo, Rute N Fonseca, Martin Balboa López, Susana Ferreira, João Paulo Oliveira","doi":"10.1097/j.pbj.0000000000000291","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"10 2","pages":"e291"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11984774/pdf/","citationCount":"0","resultStr":"{\"title\":\"Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (<i>GLA</i>) gene.\",\"authors\":\"José Pedro L Nunes, Ricardo Soares-Dos-Reis, Maria do Sameiro Faria, Elisabete Martins, Teresa Pinho, João Rebelo, Rute N Fonseca, Martin Balboa López, Susana Ferreira, João Paulo Oliveira\",\"doi\":\"10.1097/j.pbj.0000000000000291\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":74479,\"journal\":{\"name\":\"Porto biomedical journal\",\"volume\":\"10 2\",\"pages\":\"e291\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11984774/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Porto biomedical journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/j.pbj.0000000000000291\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/3/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Porto biomedical journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/j.pbj.0000000000000291","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene.