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

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Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease by Wuh-Liang Hwu

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Gene therapy for ultrarare diseases: a geneticist’s perspective by Wuh-Liang Hwu

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

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

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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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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

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

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Curated incidence of lysosomal storage diseases from the Taiwan Biobank by Meng-Ju Melody Tsai, Miao-Zi Hung, Yi-Lin Lin, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu

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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

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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

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