Occurrence of sotos syndrome and coffin-siris syndrome in a family

by Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, Wuh-Liang Hwu
Published 2023-03-01

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

by Hui-An Chen, Hui-An Chen, Hui-An Chen, Rai-Hseng Hsu, Rai-Hseng Hsu, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Ni-Chung Lee, Ni-Chung Lee, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien, Yin-Hsiu Chien, Yin-Hsiu Chien
Published 2024-04-01

Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy

by Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, Ting-An Yen, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2023-01-01

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

by Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien
Published 2023-11-01

P197: Long term efficacy and safety of carglumic acid treatment in patients with organic acidemia in East Asia population

by Rai-Hseng Hsu, Hui-An Chen, Yin-Hsiu Chien, Wuh-Liang Hwu, Yu-Ching Lin, Ni-Chung Lee
Published 2023-01-01

Aromatic l‐amino acid decarboxylase deficiency in Taiwan

by Wuh‐Liang Hwu, Rai‐Hseng Hsu, Mei‐Hsin Li, Hui‐Min Lee, Hui‐An Chen, Ni‐Chung Lee, Yin‐Hsiu Chien
Published 2023-09-01

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

by Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien
Published 2022-09-01

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights

by Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien
Published 2024-03-01

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

Asymptomatic ASS1 carriers with high blood citrulline levels

by Hui‐An Chen, Rai‐Hseng Hsu, Kai‐Ling Chang, Yi‐Chen Huang, Yun‐Chen Chiang, Ni‐Chung Lee, Wuh‐Liang Hwu, Pao‐Chin Chiu, Yin‐Hsiu Chien
Published 2022-09-01

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia

by Rai‐Hseng Hsu, Hui‐An Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ju‐Li Lin, Hui‐Ling Weng, Yi‐Ting Lin, Yu‐Ching Lin, Ni‐Chung Lee
Published 2023-10-01

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

by Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee
Published 2023-06-01

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