Development of Newborn Screening for Pompe Disease

Tekijä Wuh-Liang Hwu, Yin-Hsiu Chien
Julkaistu 2020-01-01

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Tekijä Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin
Julkaistu 2019-10-01

Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency

Tekijä Shih-Yin Ho, Shih-Yin Ho, Yin-Hsiu Chien, Yin-Hsiu Chien, Li-Kai Tsai, Shin-ichi Muramatsu, Shin-ichi Muramatsu, Wuh-Liang Hwu, Wuh-Liang Hwu, Horng-Huei Liou, Horng-Huei Liou, Horng-Huei Liou, Ni-Chung Lee, Ni-Chung Lee
Julkaistu 2019-01-01

X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

Tekijä Szu-Ta Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yung-Ming Jeng, Mei-Hwei Chang, Wuh-Liang Hwu
Julkaistu 2009-10-01

Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3

Tekijä Ni-Chung Lee, Yin-Hsiu Chien, Chung-Hsing Wang, Siew-Lee Wong, Steven Shinn-Forng Peng, Fuu-Jen Tsai, Wuh-Liang Hwu
Julkaistu 2022-06-01

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

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

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...

Tekijä 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
Julkaistu 2018-10-01

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

Tekijä 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
Julkaistu 2020-01-01

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

Tekijä 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
Julkaistu 2012-08-01

Congenital generalized lipodystrophy in Taiwan

Tekijä 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
Julkaistu 2019-01-01

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

Tekijä 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
Julkaistu 2020-11-01