Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira
{"title":"ATTRV30M 淀粉样变性家族的异质性:葡萄牙历史和纵向病例研究对遗传咨询的影响","authors":"Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira","doi":"10.1080/13506129.2024.2332679","DOIUrl":null,"url":null,"abstract":"Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and othe...","PeriodicalId":7882,"journal":{"name":"Amyloid","volume":"33 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling\",\"authors\":\"Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira\",\"doi\":\"10.1080/13506129.2024.2332679\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and othe...\",\"PeriodicalId\":7882,\"journal\":{\"name\":\"Amyloid\",\"volume\":\"33 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyloid\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/13506129.2024.2332679\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyloid","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/13506129.2024.2332679","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and othe...