The modern face of newborn screening by Yin-Hsiu Chien, Wuh-Liang Hwu

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Development of Newborn Screening for Pompe Disease by Wuh-Liang Hwu, Yin-Hsiu Chien

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Pompe Disease: Early Diagnosis and Early Treatment Make a Difference by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee

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Congenital Malformations in Newborns—A Challenge Unmet for Decades by Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu

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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

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Turner syndrome and cardiovascular anomalies: Care for girls and women by Hsin-Hui Chiu, MD, PhD, Yin-Hsiu Chien, MD, PhD

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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

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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

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Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar h... by Chin-Chieh Hsu, Ni-Chung Lee, Yin-Hsiu Chien, Chao-Fan Liu, Yao-Lung Chang

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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

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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

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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

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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

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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

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Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report by Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, Yin-Hsiu Chien

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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

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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

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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

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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

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Slipped Capital Femoral Epiphysis as a Complication of Growth Hormone Therapy by Shuo-Yu Wang, Yi-Ching Tung, Wen-Yu Tsai, Yin-Hsiu Chien, Jing-Sheng Lee, Wuh-Liang Hwu

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