Tandem Mass Neonatal Screening in Taiwan—Report from One Center

by Hsiang-Po Huang, Kai-Lin Chu, Yin-Hsiu Chien, Ming-Lee Wei, Shu-Tzu Wu, Shiao-Fang Wang, Wuh-Liang Hwu
Published 2006-01-01

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

by Yin-Ting Zeng, Wen-Yu Liu, Pao-Chuan Torng, Wuh-Liang Hwu, Ni-Chung Lee, Chun-Yi Lin, Yin-Hsiu Chien
Published 2021-09-01

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

by Chieh‐Wen Kuo, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ching Hsu, Miao‐Zi Hung, I‐Lin Lin, Feipei Lai, Ni‐Chung Lee
Published 2020-10-01

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

by Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien
Published 2018-12-01

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

by Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang, Ni-Chung Lee
Published 2019-01-01

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Dwight D. Koeberl, Wen-Hui Tsai, Pao-Chin Chiu, Chaw-Liang Chang
Published 2017-06-01

Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a...

by Cheng-Jui Lin, Yin-Hsiu Chien, Thung-S. Lai, Hong-Mou Shih, Yi-Chou Chen, Chi-Feng Pan, Han-Hsiang Chen, Wuh-Liang Hwu, Chih-Jen Wu
Published 2018-10-01

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

by Yin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu-Jen Tsai, Siew-Lee Wong, Ni-Chung Lee, Wuh-Liang Hwu
Published 2020-06-01

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

by Yin-Hsiu Chien, Shu-Chuan Chiang, Kai-Ling Chang, Hsin-Hui Yu, Wen-I Lee, Li-Ping Tsai, Li-Wen Hsu, Min-Huei Hu, Wuh-Liang Hwu
Published 2015-01-01

Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta

by Chia-Hsuan Lin, Yin-Hsiu Chien, Shinn-Forng Peng, Wen-Yu Tsai, Yi-Ching Tung, Cheng-Ting Lee, Chun-Ching Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2014-08-01

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

by Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, Wuh-Liang Hwu
Published 2020-02-01

REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample

by Ni-Chung Lee, Wei-Chung Hsu, Lih-Maan Chang, Yi-Chen Chen, Po-Tsang Huang, Chun-Chin Chien, Yin-Hsiu Chien, Chi-Ling Chen, Wuh-Liang Hwu, Pei-Lin Lee
Published 2020-01-01

Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency

by Ni-Chung Lee, Yih-Dar Shieh, Yin-Hsiu Chien, Kai-Yuan Tzen, I-Shing Yu, Pin-Wen Chen, Min-Hsiu Hu, Meng-kai Hu, Shin-ichi Muramatsu, Hiroshi Ichinose, Wuh-Liang Hwu
Published 2013-04-01

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

by Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin
Published 2018-06-01

Long-term outcome for Down syndrome patients with hematopoietic disorders

by Meng-Ju Li, Ni-Chung Lee, Yung-Li Yang, Hsiu-Ju Yen, Hsiu-Hao Chang, Yin-Hsiu Chien, Meng-Yao Lu, Shiann-Tarng Jou, Kai-Hsin Lin, Wuh-Liang Hwu, Dong-Tsamn Lin
Published 2016-02-01

A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

by Hsin-Ming Liu, Li-Ping Tsai, Yin-Hsiu Chien, Jia-Feng Wu, Wen-Chin Weng, Shinn-Forng Peng, En-Ting Wu, Pei-Hsin Huang, Wang-Tso Lee, I-Jun Tsai, Wuh-Liang Hwu, Ni-Chung Lee
Published 2012-08-01

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

Congenital generalized lipodystrophy in Taiwan

by Rai-Hseng Hsu, Wei-De Lin, Mei-Chyn Chao, Hui-Pin Hsiao, Siew-Lee Wong, Pao-Chin Chiu, Shao-Yin Chu, Yu-Yuan Ke, Beng-Huat Lau, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Chung-Hsing Wang, Ni-Chung Lee
Published 2019-01-01

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