Ya-Hui Chang

Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan

Background/Objectives: Outsourced genomic testing can identify additional findings in patients with inherited metabolic disorders (IEMs), including lysosomal storage diseases. We examined these findings in a selected Taiwanese series. Methods: We retrospectively reviewed 13 patie...