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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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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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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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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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

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Novel Compound Heterozygous Variants in <i>TBCD</i> Gene Associated with Infantile Neurodegenerative Encephalopathy by Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee

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X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males by Szu-Ta Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yung-Ming Jeng, Mei-Hwei Chang, Wuh-Liang Hwu

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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

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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

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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

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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

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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang, Dietrich Matern

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