| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
|---|---|---|---|---|---|---|
| 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 | 0 | ||
| 2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | Chien Y.-H.; Chen P.-W.; Lee N.-C.; 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 | 19 | 17 | |
| 2013 | AADC deficiency. Occurring in humans, modeled in rodents. | WUH-LIANG HWU ; Lee N.-C.; Chien Y.-H.; Muramatsu S.-I.; Ichinose H. | Advances in Pharmacology | 11 | 0 | |
| 2013 | AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients | WUH-LIANG HWU ; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H. | Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012 | 0 | ||
| 2012 | An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery | Lee N.-C.; 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.; Chien Y.-H.; WUH-LIANG HWU | Genetic Vaccines and Therapy | 0 | ||
| 2008 | Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review | Yen T.-Y.; WUH-LIANG HWU ; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C. | European Journal of Pediatrics | 39 | 32 | |
| 2005 | Adenoviral interneuronal transportation after retrograde gene transfer in mice | Tsai L.-K.; 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 ; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y. | Journal of the Formosan Medical Association | 4 | ||
| 2004 | Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children | Liang J.-S.; Lee W.-T.; WUH-LIANG HWU ; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z. | Acta Paediatrica Taiwanica | 0 | ||
| 2016 | Advances in newborn screening for Pompe disease and resulting clinical outcomes | Chien Y.-H.; WUH-LIANG HWU ; Lee N.-C. | Expert Opinion on Orphan Drugs | 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.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker 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.; Gr?newald 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.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M. | Journal of Inherited Metabolic Disease | 32 | 29 | |
| 2017 | Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease | Chien Y.-H.; WUH-LIANG HWU ; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. | Molecular Genetics and Metabolism Reports | 4 | ||
| 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 | ||
| 2012 | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | Chiang S.-C.; WUH-LIANG HWU ; Lee N.-C.; Hsu L.-W.; Chien Y.-H. | Molecular Genetics and Metabolism | 47 | 47 | |
| 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.; Chien Y.-H.; Mar?di L.; WUH-LIANG HWU ; Bodamer O.A. | Annals of Laboratory Medicine | 19 | 21 | |
| 2020 | Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing | Hwa H.-L.; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.; Li S.-F.; WUH-LIANG HWU ; Su C.-W. | Legal Medicine | 3 | 3 | |
| 2014 | Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases | WUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W. | Topics in Current Chemistry | 5 | 5 | |
| 2009 | Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment | Wu C.-C.; Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J. | Laryngoscope | 13 | 13 |
