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機構 日期 題名 作者
臺大學術典藏 2022-04-29T08:10:05Z 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.
臺大學術典藏 2020-12-24T06:17:00Z Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏 2020-12-24T06:16:38Z 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.
臺大學術典藏 2020-12-24T06:16:34Z Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H.
臺大學術典藏 2020-12-16T02:26:24Z 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.; WUH-LIANG HWU; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M.
臺大學術典藏 2020-12-16T02:26:17Z Neonatal screening and monitoring system in Taiwan. Wuh-Liang Hwu;Huang A.C.;Chen J.S.;Hsiao K.J.;Tsai W.Y.; WUH-LIANG HWU; Huang A.C.; Chen J.S.; Hsiao K.J.; Tsai W.Y.
臺大學術典藏 2020-12-16T02:26:17Z 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.; 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.
臺大學術典藏 2020-12-16T02:25:48Z Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan Niu D.-M.;Chien Y.-H.;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.; Niu D.-M.; Chien Y.-H.; 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.
臺大學術典藏 2020-12-16T02:25:45Z 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.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; 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.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M.
臺大學術典藏 2020-12-09T01:38:44Z Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M.

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