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Published in 2017 at "Neurologia"
DOI: 10.1016/j.nrl.2015.06.004
Abstract: INTRODUCTION Information on achieving presymptomatic diagnosis of spinocerebellar ataxia (SCA) is limited. The advent of molecular diagnosis makes it possible to identify the carriers of different diseases and has also introduced the prospect of detecting…
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Keywords:
diagnosis;
diagnosis autosomal;
ethical considerations;
presymptomatic diagnosis ... See more keywords
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1
Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-61303-9
Abstract: It is unknown whether early diagnosis of autosomal dominant polycystic kidney disease (ADPKD) can enable earlier management and improve outcomes. We conducted a post hoc analysis of data from the TEMPO 3:4 trial. Subjects were…
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Keywords:
diagnosis;
diagnosis autosomal;
early diagnosis;
disease ... See more keywords