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

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

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis

por Chuang, Chih-Kuang, Lee, Chung-Lin, Tu, Ru-Yi, Lo, Yun-Ting, Sisca, Fran, Chang, Ya-Hui, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Lin, Hsiang-Yu, Lin, Shuan-Pei
Publicado 2021

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

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

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

por Chu, Tzu-Hung, Chien, Yin-Hsiu, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Ho, Huey-Jane, Lai, Chih-Jou, Chiang, Chuan-Chi, Lin, Niang-Cheng, Yang, Chia-Feng, Hwu, Wuh-Liang, Lee, Ni-Chung, Lin, Shuan-Pei, Liu, Chin-Su, Hu, Rey-Heng, Ho, Ming-Chih, Niu, Dau-Ming
Publicado 2019