公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
1992 | Association between glucose-6- phosphate dehydrogenase deficiency and neonatal jaundice: Interaction with multiple risk factors | MING-WHEI YU ; Hsiao K.-J.; Wuu K.-D.; Chen C.-J. | International Journal of Epidemiology | 26 | 20 | |
1999 | Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation | WUH-LIANG HWU ; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M. | Human Genetics | 35 | 28 | |
2006 | Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency | NI-CHUNG LEE ; Cheng L.-Y.; Liu T.-T.; Hsiao K.-J.; Chiu P.-C.; Niu D.-M. | Molecular Genetics and Metabolism | 14 | 14 | |
2008 | Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency | Liu K.-M.; Liu T.-T.; NI-CHUNG LEE ; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. | Archives of Neurology | 22 | 14 | |
2016 | Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography | Liu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H. | Clinica Chimica Acta | 4 | 4 | |
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 | |
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 | |
2003 | Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations | Kobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU ; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T. | Molecular Genetics and Metabolism | 68 | 66 | |
2014 | Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan | Chiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN ; Hsiao K.-J.; Liu T.-T. | Biochemical Genetics | 14 | 13 | |
2006 | α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5] | NI-CHUNG LEE ; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. | Nephrology Dialysis Transplantation | 4 | 3 |