Author

Shuan-Pei Lin

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Review Open access Sep 2026

Consensus on gene therapy for spinal muscular atrophy in Taiwan.

The Taiwan Child Neurology Society convened 17 pediatricians with extensive clinical experience in SMA to establish a consensus on gene therapy for SMA in Taiwan, and recommends incorporating SMA into the newborn screening program and emphasizes that gene therapy should be evaluated based on SMN2 copy number and clinic...

Yuh-Jyh Jong, Yin-Hsiu Chien, Wen-Chen Liang et al. · Journal of the Formosan Medi... · 0 citations

Review Open access Aug 2026

From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders

Genotype-to-cardiac phenotype patterns support the need for gene-informed, systematic cardiac surveillance rather than symptom-driven referral in children with diseases including Williams–Beuren syndrome and lysosomal storage diseases.

Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang et al. · International Journal of Mol... · 0 citations

#gene editing Review Open access Sep 2026

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-predominant or part of multisystem disease....

Chung-Lin Lee, Chih-Kuang Chuang, Ya-Hui Chang et al. · International Journal of Mol... · 0 citations