AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation

Por Lu, Yung-Hsiu, Li, Cheng-Fang, Huang, Chun-Kai, Lin, Yu-Ting, Hsu, Ting-Rong, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inord...

Por Lin, Yu-Ting, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsu, Ting-Rong, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

Por Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease

Por Chang, Sheng-Kai, Lu, Yung-Hsiu, Chen, Yun-Ru, Hsieh, Yu-Ping, Lin, Wei-Jou, Hsu, Ting-Rong, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center

Por Cheng, Chih-Ya, Hsu, Ting-Rong, Yang, Chia-Feng, Chu, Tzu-Hung, Lu, Yung-Hsiu, Chang, Sheng-Kai, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of F...

Por Niu, Dau-Ming, Hsu, Ming-Jia, Chang, Fu-Pang, Lu, Yung-Hsiu, Hung, Sheng-Che, Wang, Yu-Chen, Yang, An-Hang, Hsu, Chia-Lin
Publicado no Ann Transl Med (2017)

AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry

Por Lu, Yung-Hsiu, Huang, Po-Hsun, Wang, Li-Yun, Hsu, Ting-Rong, Li, Hsing-Yuan, Hsieh, Yu-Ping, Hung, Sheng-Che, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes

Por Khoo, Shih-Hong, Tsai, Fang-Chih, Wang, An-Guor, Lu, Yung-Hsiu, Chu, Tzu-Hung, Yang, Chia-Feng, Hsu, Ting-Rong, Lai, Chih-Jou, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

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)