The modern face of newborn screening

by Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2023-02-01

Development of Newborn Screening for Pompe Disease

by Wuh-Liang Hwu, Yin-Hsiu Chien
Published 2020-01-01

Congenital Malformations in Newborns—A Challenge Unmet for Decades

by Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2015-02-01

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2013-08-01

Precocious puberty in patients with Pompe disease

by Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Mei-Huei Chen, Mei-Huei Chen, Yin-Hsiu Chien, Yin-Hsiu Chien, Yi-Ching Tung
Published 2023-08-01

Turner syndrome and cardiovascular anomalies: Care for girls and women

by Hsin-Hui Chiu, MD, PhD, Yin-Hsiu Chien, MD, PhD
Published 2020-04-01

Russell–Silver syndrome presenting with ambiguous genitalia

by I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee
Published 2017-08-01

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

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease.

by Yin-Hsiu Chien, Der-Sheng Han, Wuh-Liang Hwu, Beth L Thurberg, Wei-Shiung Yang
Published 2013-01-01

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

by Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu
Published 2020-04-01

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

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

Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review

by Meng-Ju Melody Tsai, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yi-Ching Tung
Published 2022-04-01

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

by Han-Yi Lin, Wen-Yu Tsai, Yi-Ching Tung, Shih-Yao Liu, Ni-Chung Lee, Ni-Chung Lee, Yin-Hsiu Chien, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Cheng-Ting Lee, Cheng-Ting Lee
Published 2022-03-01

P838: Spectrum of short tandem repeats in Taiwanese population

by Ching Hsu, Ming-Wei Hung, I-Lin Lin, Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2024-01-01

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

P611: Real-world comparison of HLA callers from exome sequencing data

by Yi-Lin Lin, Ni-Chung Lee, Ching Hsu, Yi-Chen Huang, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2024-01-01

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

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening

by Shih-Yao Liu, Cheng-Ting Lee, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Yu Tsai
Published 2018-02-01

Glycogen Storage Disease Type Ib: The First Case in Taiwan

by Hui-Ju Hsiao, Hsiu-Hao Chang, Wuh-Liang Hwu, Ching-Wan Lam, Ni-Chung Lee, Yin-Hsiu Chien
Published 2009-06-01