Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study von Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, Raynaud, Stephanie, Lago, Tiffany R., Paradis, Angela D., Foster, Richard, Chin, Russell, Berger, Zdenek

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

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Gene therapy for ultrarare diseases: a geneticist's perspective von Hwu, Wuh-Liang

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Biparental Inheritance of Mitochondrial DNA in Humans von Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

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

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Comparison of GATK and DeepVariant by trio sequencing von Lin, Yi-Lin, Chang, Pi-Chuan, Hsu, Ching, Hung, Miao-Zi, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lai, FeiPei, Lee, Ni-Chung

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Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease von Hwu, Paul Wuh‐Liang, Kiening, Karl, Anselm, Irina, Compton, David R, Nakajima, Takeshi, Opladen, Thomas, Pearl, Phillip L, Roubertie, Agathe, Roujeau, Thomas, Muramatsu, Shin‐ichi

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Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening von Chien, Yin-Hsiu, Chiang, Shu-Chuan, Weng, Wen-Chin, Lee, Ni-Chung, Lin, Ching-Jie, Hsieh, Wu-Shiun, Lee, Wang-Tso, Jong, Yuh-Jyh, Ko, Tsang-Ming, Hwu, Wuh-Liang

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Towards a reference genome that captures global genetic diversity von Wong, Karen H. Y., Ma, Walfred, Wei, Chun-Yu, Yeh, Erh-Chan, Lin, Wan-Jia, Wang, Elin H. F., Su, Jen-Ping, Hsieh, Feng-Jen, Kao, Hsiao-Jung, Chen, Hsiao-Huei, Chow, Stephen K., Young, Eleanor, Chu, Catherine, Poon, Annie, Yang, Chi-Fan, Lin, Dar-Shong, Hu, Yu-Feng, Wu, Jer-Yuarn, Lee, Ni-Chung, Hwu, Wuh-Liang, Boffelli, Dario, Martin, David, Xiao, Ming, Kwok, Pui-Yan

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STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa von Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt

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Gene therapy improves brain white matter in aromatic l‐amino acid decarboxylase deficiency von Tseng, Chih‐Hsien, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hsu, Yung‐Chin, Peng, Shinn‐Forng, Tseng, Wen‐Yih I., Hwu, Wuh‐Liang

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease von Kishnani, Priya S., Hwu, Wuh-Liang, Mandel, Hanna, Nicolino, Marc, Yong, Florence, Corzo, Deyanira

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

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Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency von Tai, Chun-Hwei, Lee, Ni-Chung, Chien, Yin-Hsiu, Byrne, Barry J., Muramatsu, Shin-Ichi, Tseng, Sheng-Hong, Hwu, Wuh-Liang

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

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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study von De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

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Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement von Kishnani, Priya S, Hwu, Wuh-Liang

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Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns von Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H, Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang

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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease von Burton, Barbara K, Kronn, David F, Hwu, Wuh-Liang, Kishnani, Priya S

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A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease von Zeng, Yin-Ting, Liu, Wen-Yu, Torng, Pao-Chuan, Hwu, Wuh-Liang, Lee, Ni-Chung, Lin, Chun-Yi, Chien, Yin-Hsiu

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