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

ConclusionDelayed 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.

Source: Molecular Genetics & Genomic Medicine - October 4, 2020 Category: Genetics & Stem Cells Authors: Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura Tags: ORIGINAL ARTICLE Source Type: research