Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

Por Gelb, Michael H., Ronald Scott, C., Turecek, Frantisek, Liao, Hsuan-Chieh
Publicado no Mol Genet Metab Rep (2017)

AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients

Por Huang, Chun-Kai, Liao, Hsuan-Chieh, Hsieh, Yu-Ping, Chen, Ya-Chi, Yang, Chia-Feng, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute

Por Yang, Chia-Feng, Chu, Tzu-Hung, Huang, Ling-Yi, Liao, Hsuan-Chieh, Soong, Wen-Jue, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease

Por Liao, Hsuan-Chieh, Chan, Min-Ju, Yang, Chia-Feng, Chiang, Chuan-Chi, Niu, Dau-Ming, Huang, Chun-Kai, Gelb, Michael H.
Publicado no Clin Chem (2017)

Lymphocyte Galactocerebrosidase Activity by Liquid Chromatography-Tandem Mass Spectrometry for Post-Newborn Screening Evaluation of Krabbe Disease

Por Liao, Hsuan-Chieh, Spacil, Zdenek, Ghomashchi, Farideh, Escolar, Maria L., Kurtzberg, Joanne, Orsini, Joseph J., Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
Publicado no Clin Chem (2017)

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

Por Spacil, Zdenek, Kumar, Arun Babu, Liao, Hsuan-Chieh, Auray-Blais, Christiane, Stark, Samantha, Suhr, Teryn R., Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Publicado no Clin Chem (2015)

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients wit...

Por Liu, Hao-Chuan, Lin, Hsiang-Yu, Yang, Chia-Feng, Liao, Hsuan-Chieh, Hsu, Ting-Rong, Lo, Chiao-Wei, Chang, Fu-Pang, Huang, Chun-Kai, Lu, Yung-Hsiu, Lin, Shuan-Pei, Yu, Wen-Chung, Niu, Dau-Ming
Publicado no Orphanet J Rare Dis (2014)

AB164. Methylmalonic acidemia/propionic acidemia in Taiwan

Por Chu, Tzu-Hung, Chien, Yin-Hsiu, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Ho, Huey-Jane, Liu, Chin-Su, Lai, Chih-Jou, Chiang, Chuan-Chi, Yang, Chia-Feng, Hwu, Wuh-Liang, Lin, Shuan-Pei, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

Por Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J., Caggana, Michele, Hughes, Erin E., Stevens, Colleen, DiAntonio, Lisa, Liao, Hsuan Chieh, Hong, Xinying, Ghomashchi, Farideh, Kumar, Arun Babu, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H., Yu, Chunli
Publicado no Clin Chem (2017)

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Por Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuan-Jen, Huang, You-Hsin, Chan, Min-Ju, Liao, Hsuan-Chieh, Lo, Yun-Ting, Wang, Li-Yun, Tu, Ru-Yi, Fang, Yi-Ya, Chen, Tzu-Lin, Ho, Hui-Chen, Chiang, Chuan-Chi, Lin, Shuan-Pei
Publicado no Orphanet J Rare Dis (2018)

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

Por Lin, Hsiang-Yu, Liu, Hao-Chuan, Huang, Yu-Hsiu, Liao, Hsuan-Chieh, Hsu, Ting-Rong, Shen, Chia-I, Li, Shao-Tzu, Li, Cheng-Fang, Lee, Li-Hong, Lee, Pi-Chang, Huang, Chun-Kai, Chiang, Chuan-Chi, Lin, Ching-Yuang, Lin, Shuan-Pei, Niu, Dau-Ming
Publicado em 2013

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Por Hsu, Ting-Rong, Sung, Shih-Hsien, Chang, Fu-Pang, Yang, Chia-Feng, Liu, Hao-Chuan, Lin, Hsiang-Yu, Huang, Chun-Kai, Gao, He-Jin, Huang, Yu-Hsiu, Liao, Hsuan-Chieh, Lee, Pi-Chang, Yang, An-Hang, Chiang, Chuan-Chi, Lin, Ching-Yuang, Yu, Wen-Chung, Niu, Dau-Ming
Publicado em 2014