Rezultaty - Wuh-Liang Hwu

New era in the diagnosis and treatment of pediatric genetic diseases od Wuh-Liang Hwu

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

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

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

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

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Occurrence of sotos syndrome and coffin-siris syndrome in a family od Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, Wuh-Liang Hwu

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The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan od 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 od 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 od 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 od Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee

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Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy od Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee

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Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011-2017... od Heng-Yu Chang, Wuh-Liang Hwu, Ching-Hui Chen, Ching-Hui Chen, Chun-Yin Hou, Wei Cheng, Wei Cheng, Wei Cheng

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X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males od 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 od 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... od 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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Patient selection considerations for AADC deficiency gene therapy od Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

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Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta od 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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Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reac... od Shou-Jen Kuo, Gwo-Chin Ma, Shun-Ping Chang, Hsin-Hung Wu, Chih-Ping Chen, Tung-Ming Chang, Wen-Hsiang Lin, Sheng-Hai Wu, Mei-Hui Lee, Wuh-Liang Hwu, Ming Chen

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