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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
臺大學術典藏 2018 Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center Lin C.-J.; YIN-HSIU CHIEN; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; Hwu W.-L.; Wu C.-J.
臺大學術典藏 2018 Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS) Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Lin S.-P.
臺大學術典藏 2018 A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; YIN-HSIU CHIEN
臺大學術典藏 2018 SHOX deficiency in short Taiwanese children: A single-center experience Tung Y.-C.;Lee N.-C.;Hwu W.-L.;Shih-Yao Liu;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; Hwu W.-L.; SHIH-YAO LIU; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏 2017 Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; LU LU; Chien Y.-H.
臺大學術典藏 2017 Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial Chien Y.-H.;Lee N.-C.;Sheng-Hong Tseng;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Hwu W.-L.; Chien Y.-H.; Lee N.-C.; SHENG-HONG TSENG; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏 2017 Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial YIN-HSIU CHIEN; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏 2017 Newborn screening for severe combined immunodeficiency in Taiwan YIN-HSIU CHIEN; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L.
臺大學術典藏 2017 A review of Biomarkers for Alzheimer’s Disease in Down Syndrome Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
國立成功大學 2017 Newborn screening for severe combined immunodeficiency in Taiwan Chien, Y.-H.;Yu, H.-H.;Lee, N.-C.;Ho, Ho H.-C.;Kao, S.-M.;Lu, M.-Y.;Jaing, T.-H.;Lee, W.-I.;Chang, K.-W.;Shieh, C.-C.;Chen, J.-S.;Chiang, S.-C.;Liu, C.-C.;Hwu, W.-L.

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