Articles with "diagnosis autosomal" as a keyword



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Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias.

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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… read more here.

Keywords: diagnosis; diagnosis autosomal; ethical considerations; presymptomatic diagnosis ... See more keywords
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Implications of early diagnosis of autosomal dominant polycystic kidney disease: A post hoc analysis of the TEMPO 3:4 trial

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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… read more here.

Keywords: diagnosis; diagnosis autosomal; early diagnosis; disease ... See more keywords