1. A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. Issue 10 (17th May 2006) Authors: Niu, Dau-Ming; Hwang, Betau; Hwang, Han-Wei; Wang, Nana H; Wu, Jer-Yuarn; Lee, Pi-Chang; Chien, Jen-Chung; Shieh, Ru-Chi; Chen, Yuan-Tsong Journal: Journal of medical genetics Issue: Volume 43:Issue 10(2006) Page Start: 817 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation. Issue 1 (December 2017) Authors: Lee, Han-Jui; Hsu, Ting-Rong; Hung, Sheng-Che; Yu, Wen-Chung; Chu, Tzu-Hung; Yang, Chia-Feng; Bizjajeva, Svetlana; Tiu, Chui-Mei; Niu, Dau-Ming Journal: BMC neurology Issue: Volume 17:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience. Issue 5 (30th April 2021) Authors: Fan, Wen-Po; Li, Hsing-Yuan; Tseng, Szu-Yin; Juan, Chien-Chang; Hwang, Betau; Niu, Dau-Ming; Lee, Pi-Chang Journal: Journal of the Chinese Medical Association Issue: Volume 84:Issue 5(2021) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease. Issue 9 (2nd July 2020) Authors: Wang, Wei-Ting; Sung, Shih-Hsien; Liao, Jo-Nan; Hsu, Ting-Rong; Niu, Dau-Ming; Yu, Wen-Chung Journal: Journal of the Chinese Medical Association Issue: Volume 83:Issue 9(2020) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012. Issue 1 (December 2016) Authors: Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio; Chiu, Pao; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy. (December 2016) Authors: Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming Journal: Journal of child neurology Issue: Volume 31:Number 14(2016:Dec.) Page Start: 1617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗