| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
| 2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | YIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. | Molecular Genetics and Metabolism | 37 | 34 | |
| 2013 | AADC deficiency. Occurring in humans, modeled in rodents. | WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Muramatsu S.-I.; Ichinose H. | Advances in Pharmacology | 12 | 0 | |
| 2013 | AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients | WUH-LIANG HWU ; NI-CHUNG LEE ; Shieh Y.-D.; KAI-YUAN TZEN ; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN | Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012 | 0 | 0 | |
| 2012 | An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery | NI-CHUNG LEE ; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Genetic Vaccines and Therapy | 3 | 0 | |
| 2008 | Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review | TING-YU YEN ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; MING-TAI LIN ; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE | European Journal of Pediatrics | 47 | 38 | |
| 2003 | Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Liang J.-S.; WANG-TSO LEE ; Wang P.-J.; WEN-YU TSAI | Journal of the Formosan Medical Association | 7 | 4 | |
| 2022 | Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Tsai, Meng-Ju Melody; Tsai, Wei-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; YIN-HSIU CHIEN ; YI-CHING TUNG | Journal of the Formosan Medical Association = Taiwan yi zhi | 1 | | |
| 2022 | Advanced therapeutic strategy for hereditary neuromuscular diseases | WUH-LIANG HWU ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Byrne B.J. | Molecular therapy : the journal of the American Society of Gene Therapy | 1 | 1 | |
| 2016 | Advances in newborn screening for Pompe disease and resulting clinical outcomes | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Expert Opinion on Orphan Drugs | 0 | 0 | |
| 2017 | Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. | Molecular Genetics and Metabolism Reports | 9 | 8 | |
| 2012 | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Hsu L.-W.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 59 | 56 | |
| 2013 | Analysis of lyso-globotriaosylsphingosine in dried blood spots | Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN ; Maródi L.; WUH-LIANG HWU ; Bodamer O.A. | Annals of Laboratory Medicine | 23 | 23 | |
| 2014 | Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wang S.-F.; Chiang S.-C.; Hsu L.-W. | Topics in Current Chemistry | 5 | 5 | |
| 2003 | Association between levels of TNF-α and TNF-α promoter - 308 A/A polymorphism in children with kawasaki disease | YIN-HSIU CHIEN ; Chang K.-W.; YAO-HSU YANG ; MENG-YAO LU ; YU-TSAN LIN ; BOR-LUEN CHIANG | Journal of the Formosan Medical Association | 32 | 26 | |
| 2012 | Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation | Li S.-C.; WUH-LIANG HWU ; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO ; Chen Y.-T.; NI-CHUNG LEE | Journal of Child Neurology | 12 | 10 | |
| 2022 | Asymptomatic ASS1 carriers with high blood citrulline levels | Chen, Hui-An; Hsu, Rai-Hseng; Chang, Kai-Ling; Huang, Yi-Chen; Chiang, Yun-Chen; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu, Pao-Chin; YIN-HSIU CHIEN | Molecular genetics & genomic medicine | | | |
| 2015 | Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening | YIN-HSIU CHIEN ; Goldstein J.L.; WUH-LIANG HWU ; Smith P.B.; NI-CHUNG LEE ; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P. | JIMD Reports | 26 | 0 | |
| 2015 | Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency | NI-CHUNG LEE ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Molecular Therapy | 17 | 15 | |
| 2016 | Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency | Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN ; WUH-LIANG HWU | European Journal of Medicinal Chemistry | 13 | 13 | |
| 2018 | Biparental inheritance of mitochondrial DNA in humans | Luo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 217 | 199 | |
