| 201. Neuron-Specific Systemic Gene Therapy for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency NC Lee, SI Muramatsu, YH Chien, PW Chen, KY Tzen, BJ Byrne, WL Hwu Molecular Therapy 23, S80, 2015 | | 2015 |
| 2285 Efficacy and safety of avalglucosidase alfa in participants with late-onset pompe disease after 97 weeks of treatment during the COMET trial R Henderson, PS Kishnani, J Díaz-Manera, H Kushlaf, S Ladha, ... BMJ Neurology Open 4 (Suppl 1), 2022 | | 2022 |
| 3-O-methyldopa levels in newborns: result of newborn screening for aromatic l-amino-acid decarboxylase deficiency YH Chien, PW Chen, NC Lee, WS Hsieh, PC Chiu, WL Hwu, FJ Tsai, ... Molecular genetics and metabolism 118 (4), 259-263, 2016 | 71 | 2016 |
| 372. U1 snRNA-Mediated Correction of a Splicing Error of the Dopa Decarboxylase Gene NC Lee, YM Lee, YH Chien, B Byrne, WL Hwu Molecular Therapy 24, S149, 2016 | | 2016 |
| 389 Cognitive disorder in children with epilepsy G Pilina Archives of Disease in Childhood 106 (Suppl 2), A163-A163, 2021 | | 2021 |
| 390 Efficacy of gene therapy with eladocagene exuparvovec in patients with AADC deficiency compared with natural history controls PWL Hwu, YH Chien, NC Lee, SH Tseng, A Wang, J Wang, T Schilling, ... Archives of Disease in Childhood 106 (Suppl 2), A163-A164, 2021 | 1 | 2021 |
| 60. Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients WL Hwu, S Muramatsu, SH Tseng, KY Tzen, NC Lee, YH Chien, ... Molecular Therapy 21, 1, 2013 | | 2013 |
| A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome CM Chu, HH Yu, TL Kao, YH Chen, HH Lu, ET Wu, YL Yang, CH Lin, ... NPJ Genomic Medicine 7 (1), 64, 2022 | 3 | 2022 |
| A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome CK TSENG, NC Lee, CM Chu, MJ Tsai, HH Yu, ET Wu, YL Yang, CH Lin, ... | | 2022 |
| A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System SH Hsieh, PH Cheng, SL Hsieh, PH Chen, YC Weng, YH Chien, Z Wang, ... New Advances in Intelligent Decision Technologies: Results of the First KES …, 2009 | | 2009 |
| A Murine Model of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency WL Hwu, NC Lee, YD Hsieh, SW Lin, YH Chien MOLECULAR THERAPY 20, S58-S58, 2012 | | 2012 |
| A neuron-specific gene therapy relieves motor deficits in Pompe disease mice NC Lee, WL Hwu, SI Muramatsu, DJ Falk, BJ Byrne, CH Cheng, NC Shih, ... Molecular neurobiology 55, 5299-5309, 2018 | 48 | 2018 |
| A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child HM Liu, LP Tsai, YH Chien, JF Wu, WC Weng, SF Peng, ET Wu, ... Pediatrics & Neonatology 53 (4), 264-268, 2012 | 20 | 2012 |
| A novel deep intronic variant strongly associates with Alkaptonuria CY Lai, IJ Tsai, PC Chiu, DB Ascher, YH Chien, YH Huang, YL Lin, ... NPJ genomic medicine 6 (1), 89, 2021 | 11 | 2021 |
| A Phase I/II Trial of Gene Therapy for an Inherited Disorder of Monoamine Neurotransmitter Deficiency NC Lee, YH Chien, S Muramatsu, SH Tseng, B Byrne, CH Tai, C Silber, ... MOLECULAR THERAPY 25 (5), 105-105, 2017 | | 2017 |
| A pilot study of biliary atresia newborn screening using dried blood spot matrix metalloproteinase-7 CS Lee, YH Ni, HL Chen, JF Wu, HY Hsu, YH Chien, NC Lee, WL Hwu, ... Journal of pediatric gastroenterology and nutrition 76 (4), 418-423, 2023 | 7 | 2023 |
| A pilot study of biliary atresia newborn screening using dried blood spot matrix metalloproteinase-7 CS Lee, YH Ni, HL Chen, JF Wu, HY Hsu, YH Chien, NC Lee, PWL Hwu, ... Journal of Hepatology 77, S514, 2022 | | 2022 |
| A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease YT Zeng, WY Liu, PC Torng, WL Hwu, NC Lee, CY Lin, YH Chien Scientific Reports 11 (1), 18826, 2021 | 3 | 2021 |
| A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease HY Li, WA Chen, HY Lin, CW Tsai, YT Chiu, WY Yun, NC Lee, YH Chien, ... Communications Chemistry 7 (1), 91, 2024 | | 2024 |
| A promoter sequence variant of ZNF750 is linked with familial psoriasis CF Yang, WL Hwu, LC Yang, WH Chung, YH Chien, CF Hung, HC Chen, ... Journal of investigative dermatology 128 (7), 1662-1668, 2008 | 48 | 2008 |
