Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

by Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ming-Ren Chen, Kuo-Tzu Sung, Shan-Miao Lin, Charles Jia-Yin Hou, Dau-Ming Niu, Tung-Ming Chang, Chung-Lieh Hung, Shuan-Pei Lin
Published 2020-01-01

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

by Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Ru-Yi Tu, Ya-Hui Chang, Chia-Ying Chang, Pao Chin Chiu, Tung-Ming Chang, Wen-Hui Tsai, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2019-10-01

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

by Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, Yin-Hsiu Chien, Yu-Mei Wang, Fuu-Jen Tsai, Yen-Yin Chou, Shio Jean Lin, Hui-Ping Pan, Dau-Ming Niu, Wuh-Liang Hwu, Yu-Yuan Ke, Shuan-Pei Lin
Published 2016-06-01

A 15-Year Perspective of the Fabry Outcome Survey

by Roberto Giugliani MD, PhD, Dau-Ming Niu MD, PhD, Uma Ramaswami MD, Michael West MD, Derralynn Hughes MD, Christoph Kampmann MD, PhD, Guillem Pintos-Morell MD, PhD, Kathleen Nicholls MD, Jörn-Magnus Schenk MD, PhD, Michael Beck MD
Published 2016-09-01

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn...

by Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Published 2018-09-01

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 D...

by Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Published 2020-10-01

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

by Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev
Published 2021-05-01

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)

by Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2020-11-01

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

by Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu
Published 2019-04-01

Functional independence of Taiwanese patients with mucopolysaccharidoses

by Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin
Published 2019-08-01

High Incidence Genetic Diseases in Taiwan. Part I: Molecular Studies of Homocystinuria. Part II: Improvement of the Sensitivity of Newborn Screening of Fabry disease Through a High...

by Yung-Hsiu Lu, 盧永修
Published 2018

To develop a new pharmacological chaperones therapeutic strategy for Fabry disease by using Fabry disease mice model

by Ssu-Chia Wang, 王思嘉
Published 2018

The association study of genetic polymorphism on A4GALT gene and clinical severity of cardiac-type Fabry disease

by Szu-Yin Cheng, 鄭思吟
Published 2018

Investigating the Therapeutic efficacy of GLA-IGF2 fusion enzyme with Pharmacological Chaperone ACK170 for Fabry disease

by Yu-Ting Lin, 林妤庭
Published 2018

Development of a Gene Therapy for Fabry Disease Using Adeno-Associated Viral Vector Mediated Gene Transfer

by Ya-Ting Lee, 李雅婷
Published 2019

To develop a fusion protein combined α-galactosidase A and insulin-like growth factor 2 for treatment of Fabry disease

by Ping-Hui Li, 李萍惠
Published 2017

Later-onset Fabry Disease, Cardiac Damage Progress in Silence: Experience with a Highly Prevalent Mutation

by Ting-Rong Hsu, 許庭榕
Published 2016

Studies of genotype-phenotype relationship and factors related to the outcome of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency and the genetic counseling

by Kai-Ming Liu, 劉凱銘
Published 2006

High Incidence of the Fabry Disease Mutation IVS4 +919 G>A in Taiwan and Its Role in Idiopathic Hypertrophic Cardiomyopathy Patients

by Kah-Wai Chong, 張家維
Published 2010

An Optimized Newborn Screening Protocol for Detection of Prevalent Fabry Disease Mutations.

by Sheng-Hung Lee, 李昇鴻
Published 2014