Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
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1999 | 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case | Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S. | Acta Paediatrica Taiwanica | 3 | 0 | |
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 | 39 | 36 | |
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 | 48 | 38 | |
2005 | Adenoviral interneuronal transportation after retrograde gene transfer in mice | LI-KAI TSAI ; Tsai M.-S.; Shyue S.-K.; WUH-LIANG HWU ; Li H. | Molecular Brain Research | 2 | 2 | |
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 | |
2004 | Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children | Liang J.-S.; WANG-TSO LEE ; WUH-LIANG HWU ; STEVEN SHINN-FORNG PENG ; Chu L.-W.; Wang P.-J.; Shen Y.-Z. | Acta Paediatrica Taiwanica | 9 | 0 | |
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 | |
2016 | Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders | Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cortès-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; Häberle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; Kölker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Grünewald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; Mühlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Peña-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M. | Journal of Inherited Metabolic Disease | 50 | 43 | |
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 | |
2008 | Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease | Corzo D.; Byrne B.; WUH-LIANG HWU ; Leslie N.; Mandel H.; Nicolino M. | Clinical Therapeutics | 0 | 0 | |
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 | 61 | 57 | |
1989 | Alkaptonuria in a Chinese baby | Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 1 | 1 | |
1999 | Allele distribution at the FMR1 locus in the general Chinese population | Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU | Clinical Genetics | 19 | 14 | |
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 | 24 | 23 | |
2020 | Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing | HSIAO-LIN HWA ; MING-YIH WU ; JAMES CHUN-I LEE ; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; WUH-LIANG HWU ; Su, Chih-Wen | Legal medicine (Tokyo, Japan) | 8 | 6 | |
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 |