Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Takaaki Sawada Jun Kido Keishin Sugawara Shirou MatsumotoFumio TakadaKazuya TsuboiAkira OhtakeFumio EndoKimitoshi Nakamura

Published in: Molecular genetics & genomic medicine (2020)

Delayed diagnosis should be avoided in patients with FD. Our results will help clinicians diagnose FD and determine the appropriate treatment for patients with these variants.

Keyphrases

copy number
replacement therapy
palliative care
heart failure
loop mediated isothermal amplification
hypertrophic cardiomyopathy
real time pcr
left ventricular
smoking cessation
quantum dots
sensitive detection