Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated <i>idua</i> Correlated wit...

by Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Yuan-Rong Tu, Shuan-Pei Lin, Huai-Jen Tsai
Published 2022-07-01

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

by Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-08-01

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2024-04-01

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

by Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-09-01

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan

by Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2022-06-01

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

by Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin
Published 2024-05-01