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

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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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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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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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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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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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Pompe Disease: Early Diagnosis and Early Treatment Make a Difference von Chien, Yin-Hsiu, Hwu, Wuh-Liang, 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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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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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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Gene therapy for ultrarare diseases: a geneticist's perspective von Hwu, Wuh-Liang

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) von Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hui-Ying, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J, Hsu, Li-Wen

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A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase‐7 von Lee, Chee‐Seng, Ni, Yen‐Hsuan, Chen, Huey‐Ling, Wu, Jia‐Feng, Hsu, Hong‐Yuan, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Yen, Ting‐An, Chua, Huey‐Huey, Chen, Yu‐Ju, Wang, Yu‐Lin, Chang, Mei‐Hwei

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Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth von Chien, Yin-Hsiu, MD, PhD, Lee, Ni-Chung, MD, PhD, Chen, Chun-An, MD, Tsai, Fuu-Jen, MD, PhD, Tsai, Wen-Hui, MD, PhD, Shieh, Jeng-Yi, MD, PhD, Huang, Hsiang-Ju, MS, Hsu, Wei-Chung, MD, PhD, Tsai, Tzu-Hsun, MD, PhD, Hwu, Wuh-Liang, MD, PhD

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CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening von Weng, Wen-Chin, Hsu, Yu-Kan, Chang, Fu-Man, Lin, Chun-Yen, Hwu, Wuh-Liang, Lee, Wang-Tso, Lee, Ni-Chung, Chien, Yin-Hsiu

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