公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 130 | 111 | |
2014 | Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA | Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P. | Orphanet Journal of Rare Diseases | 25 | 25 | |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
2009 | Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study | Wraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU ; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F. | Molecular Genetics and Metabolism | 83 | 73 | |
2019 | Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study | Whyte M.P.; Leung E.; Wilcox W.R.; Liese J.; Argente J.; Martos-Moreno G.?.; Reeves A.; Fujita K.P.; Moseley S.; Hofmann C.; Beck M.; DiMeglio L.; WUH-LIANG HWU ; Simm P.; Simmons J.; Steelman J.; Steiner R.D.; Superti-Furga A.; Study 011-10 Investigators | Journal of Pediatrics | 34 | 25 | |
2003 | Neonatal screening and monitoring system in Taiwan. | WUH-LIANG HWU ; Huang A.C.; Chen J.S.; Hsiao K.J.; WEN-YU TSAI | The Southeast Asian journal of tropical medicine and public health | 12 | 0 | |
2002 | Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study | Chu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 18 | 14 | |
1999 | Neonatal type of nonketotic hyperglycinemia | FRANK LEIGH LU ; Wang P.-J.; WUH-LIANG HWU ; Tsou Yau K.-I.; Wang T.-R. | Pediatric Neurology | 38 | 27 | |
2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
2023 | New era in the diagnosis and treatment of pediatric genetic diseases | WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
2010 | Newborn Screening | WUH-LIANG HWU ; Y. H. Chien; N. C. Lee | 台灣醫學 | 0 | ||
2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 26 | 24 | |
2010 | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. | Clinica Chimica Acta | 47 | 41 | |
2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. | Human Mutation | 287 | 257 | |
2010 | Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan | Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE ; WUH-LIANG HWU ; Lin J.-L.; Hung P.-Y.; Niu D.-M. | Journal of the Chinese Medical Association | 18 | 12 | |
2020 | Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU | Orphanet Journal of Rare Diseases | 38 | 38 | |
2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
2012 | Newborn screening for phenylketonuria: Machine learning vs clinicians | Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lai F. | Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 2012 | 3 | 0 | |
2007 | Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendations | Kemper A.R.; WUH-LIANG HWU ; Lloyd-Puryear M.; Kishnani P.S. | Pediatrics | 52 | 42 | |
2017 | Newborn screening for severe combined immunodeficiency in Taiwan | YIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU | International Journal of Neonatal Screening | 38 | 0 |