Huang-Ying Huang

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...

Mitochondrial Quality Control in Inherited Mitochondrial Cardiomyopathy: Convergent Pathobiology and a Testable Therapeutic Framework

Inherited mitochondrial cardiomyopathies arise from pathogenic variants affecting oxidative phosphorylation, mitochondrial DNA maintenance, cardiolipin remodeling, protein import, cofactor metabolism, and mitochondrial dynamics or proteostasis. These disorders may be cardiac-pred...