AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups

Por Chu, Tzu-Hung, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency

Por Chu, Tzu-Hung, Yang, Chia-Feng, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB017. The extended newborn screening by tandem mass in Taiwan—results from two national newborn screening centers: Taipei Institute of Pathology & Chinese Foundation of Health

Por Niu, Dau-Ming, Chiang, Chuan-Chi, Ho, Hui-Chen
Publicado no Ann Transl Med (2015)

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability

Por Jap, Tjin-Shing, Chiu, Chih-Yang, Niu, Dau-Ming, Levine, Michael A.
Publicado em 2011

AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia

Por Yen, Chun-Yu, Chu, Tzu-Hung, Yang, Chia-Feng, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy

Por Chen, Ya-Chi, Hsiel, Shu-Chen, Pai, Ju-Shan, Chu, Tzu-Hung, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan

Por Hsieh, Yu-Ping, Gao, He-Jin, Huang, Chun-Kai, Ho, Hui-Chen, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population

Por Pai, Ju-Shan, Chen, Ya-Chi, Hsie, Shu-Chen, Yang, Chia-Feng, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses

Por Lin, Hsiang-Yu, Shih, Shou-Chuan, Chuang, Chih-Kuang, Chen, Ming-Ren, Niu, Dau-Ming, Lin, Shuan-Pei
Publicado em 2013

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)

AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan

Por Niu, Dau-Ming, Hsu, Ting-Rong, Yang, Chia-Feng, Chu, Tzu-Hung, Chiang, Chuan-Chi, Ho, Hui-Chen
Publicado no Ann Transl Med (2015)

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)

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)

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease

Por Chang, Wen-Hsin, Niu, Dau-Ming, Lu, Chi-Yu, Lin, Shyr-Yi, Liu, Ta-Chih, Chang, Jan-Gowth
Publicado no PLoS One (2017)

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)

AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy

Por Tseng, Szu Yin, Yang, Chia Feng, Hung, Chu Tzu, Chiang, Chuan-Chi, Ho, Hui-Chen, Niu, Dau-Ming
Publicado no Ann Transl Med (2017)

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from t...

Por Liu, Hao-Chuan, Perrin, Amandine, Hsu, Ting-Rong, Yang, Chia-Feng, Lin, Hsiang-Yu, Yu, Wen-Chung, Niu, Dau-Ming
Publicado no JIMD Rep (2015)

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

Por Hsu, Ting-Rong, Chang, Fu-Pang, Chu, Tzu-Hung, Sung, Shih-Hsien, Bizjajeva, Svetlana, Yu, Wen-Chung, Niu, Dau-Ming
Publicado no Int J Mol Sci (2017)

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Por Lin, Hsiang-Yu, Chuang, Chih-Kuang, Su, Yi-Ning, Chen, Ming-Ren, Chiu, Hui-Chin, Niu, Dau-Ming, Lin, Shuan-Pei
Publicado no Orphanet J Rare Dis (2015)