Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling

Maria Pedroto, Teresa Coelho, Joana Fernandes, Alexandra Oliveira, Alípio Jorge, João Mendes-Moreira
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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...
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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
遗传性转甲状腺素淀粉样变性(ATTRv amyloidosis)是一种遗传性疾病,对家族史的研究具有重要意义。本研究评估了发病年龄(AOO)的变化及其他因素对遗传性转甲状腺素淀粉样变性的影响。
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Detection of ATTR aggregates in the plasma of polyneuropathic patients with ATTR-V30M amyloidosis Modified ex-PRESS technique versus Ahmed glaucoma valve as primary glaucoma surgery for hereditary transthyretin amyloidosis glaucoma. 1. Daily life in patients with hereditary transthyretin amyloidosis: a qualitative study Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling Dual AApoAIV amyloidosis and ATTR amyloidosis arising in the same patient: a report of three cases
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