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機構	日期	題名	作者
臺大學術典藏	2018-09-10T06:06:32Z	Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.	Tsai, L.P.;Sue, W.C.;Hwu, W.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN
臺大學術典藏	2018-09-10T05:47:26Z	Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma	Tsai, C.-W.;Yang, C.-C.;Chen, H.-L.;Hwu, W.-L.;Wu, M.-Z.;Liu, K.-L.;Wu, M.-S.; Chih-Chao Yang
臺大學術典藏	2018-09-10T05:46:28Z	Camptomelic dysplasia: report of one case.	Tsao, P.N.;Teng, R.J.;Hwu, W.L.;Tsou Yau, K.I.;Wang, T.R.; PO-NIEN TSAO
臺大學術典藏	2018-09-10T05:32:20Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	Huang, H.-P.;Chien, Y.-H.;Huang, L.-M.;Ni, Y.-H.;Chang, M.-H.;Ho, M.-C.;Lee, P.-H.;Hwu, W.-L.; LI-MIN HUANG
臺大學術典藏	2018-09-10T05:03:01Z	Trisomy 18 in monozygotic twins with discordant phenotypes	Lee, J.-T.;Chou, H.-C.;Tsao, P.-N.;Hsieh, W.-S.;Hwu, W.-L.; WU-SHIUN HSIEH
臺大學術典藏	2018-09-10T05:02:49Z	Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan	Chien, Y.-H.;Hwu, W.-L.;Ariga, T.;Chang, K.-W.;Yang, Y.-H.;Lin, K.-H.;Chiang, B.-L.; KAI-HSIN LIN
臺大學術典藏	2018-09-10T04:43:58Z	Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review	Chu, S.-Y.;Tsai, W.-Y.;Chien, Y.-H.;Fang, J.-S.;Ku, C.-W.;Chang, P.-Y.;Hwu, W.-L.; WEN-YU TSAI
臺大學術典藏	2018-09-10T04:38:16Z	Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells	WUH-LIANG HWU;Hao-Sen Chiang;Lee, Y.-M.;Chiou, Y.-W.;Chiang, H.-S.;Fang, S.-W.;Yeh, H.-Y.;Hwu, W.-L.; Hwu, W.-L.; Yeh, H.-Y.; Fang, S.-W.; Chiang, H.-S.; Chiou, Y.-W.; Lee, Y.-M.; Hao-Sen Chiang; WUH-LIANG HWU
臺大學術典藏	2018-09-10T04:25:26Z	Neonatal screening and monitoring system in Taiwan.	Hwu, W.L.;Huang, A.C.;Chen, J.S.;Hsiao, K.J.;Tsai, W.Y.; WEN-YU TSAI
臺大學術典藏	2018-09-10T04:17:49Z	DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.	Hwu, W.L.;Chen, R.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN
臺大學術典藏	2018-09-10T04:05:37Z	Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study	Chu, S.-Y.;Tsai, W.-Y.;Chen, L.-H.;Wei, M.-L.;Chien, Y.-H.;Hwu, W.-L.; WEN-YU TSAI
臺大學術典藏	2018-09-10T03:41:51Z	Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.	Hwu, W.L.;Tsai, W.Y.;Lee, J.S.;Wang, P.J.;Wang, T.R.; WEN-YU TSAI
臺大學術典藏	2018-09-10T03:24:10Z	Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation	Hwu, W.-L.;Suzuki, Y.;Yang, X.;Li, X.;Chou, S.-P.;Narisawa, K.;Tsai, W.-Y.; WEN-YU TSAI
臺大學術典藏	2018	Biparental inheritance of mitochondrial DNA in humans	Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; PI-CHUAN FAN; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏	2018	Biparental inheritance of mitochondrial DNA in humans	YIN-HSIU CHIEN; Chen S.M.; Brown J.; Dell S.; Li Z.; Wang X.; Gui B.; Slone J.; Lee N.-C.; Zhang J.; Luo S.; Valencia C.A.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
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.
臺大學術典藏	2016	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	Hwu W.-L.; Lee N.-C.; Chien Y.-H.; LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.
臺大學術典藏	2016	Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene	NI-CHUNG LEE; Lee Y.-M.; Chen P.-W.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2016	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2016	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.; Chuang C.-K.; Wang C.-H.; YIN-HSIU CHIEN; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; Hwu W.-L.; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2016	Integrated care for Down syndrome	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2016	Long-term outcome for Down syndrome patients with hematopoietic disorders	Lin D.-T.; Hwu W.-L.; Lin K.-H.; Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; YIN-HSIU CHIEN; Lu M.-Y.; Jou S.-T.
臺大學術典藏	2016	Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency	Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2016	Long-term outcome for Down syndrome patients with hematopoietic disorders	Chien Y.-H.; Chang H.-H.; Yen H.-J.; Yang Y.-L.; Lee N.-C.; Li M.-J.; Li M.-J.;Lee N.-C.;Yang Y.-L.;Yen H.-J.;Chang H.-H.;Chien Y.-H.;Lu M.-Y.;Shiann-Tang Jou;Lin K.-H.;Hwu W.-L.;Lin D.-T.; Lu M.-Y.; SHIANN-TANG JOU; Lin K.-H.; Hwu W.-L.; Lin D.-T.
國立臺灣大學	2015	Pincer nail deformity as the main manifestation of Clouston syndrome	Hu, Y. -H.; Lin, Y. -C.; Hwu, W. -L.; Lee, Y. -M.; 胡務亮
臺大學術典藏	2015	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Hwu W.-L.; Hsu W.-C.; Tsai T.-H.; Chien Y.-H.; Huang H.-J.; JENG-YI SHIEH; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.
臺大學術典藏	2015	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; PI-CHUAN FAN; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.
臺大學術典藏	2015	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Hwu W.-L.; Byrne B.J.; Lee N.-C.; Muramatsu S.-I.; YIN-HSIU CHIEN; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.
臺大學術典藏	2015	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Tsai W.-H.; Shieh J.-Y.; Tsai F.-J.; CHUN-AN CHEN; Lee N.-C.; Chien Y.-H.; Chien Y.-H.;Lee N.-C.;Chun-An Chen;Tsai F.-J.;Tsai W.-H.;Shieh J.-Y.;Huang H.-J.;Hsu W.-C.;Tsai T.-H.;Hwu W.-L.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
國立交通大學	2014-12-08T15:24:03Z	NEWBORN SCREENING FOR HOMOCYSTINURIA: MACHINE LEARNING VS CLINICIANS	Chen, W. H.; Chen, H. P.; Tseng, Y. J.; Hsu, K. P.; Hsieh, S. L.; Chien, Y. H.; Hwu, W. L.; Lai, F.
臺大學術典藏	2014	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Chien C.-C.; Hwu W.-L.; Lee N.-C.; Lee C.-T.; Tung Y.-C.
臺大學術典藏	2014	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Lee N.-C.; Huang S.-C.; Hwu W.-L.; I-JUNG TSAI; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2014	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; YIN-HSIU CHIEN; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2014	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; YI-CHING TUNG; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2014	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2014	The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients	Raben N.; Ralston E.; Kishnani P.S.; Feeney E.J.; Austin S.; YIN-HSIU CHIEN; Mandel H.; Schoser B.; Prater S.; Hwu W.-L.
國立臺灣大學	2013	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien, Y. H.; Peng, S. F.; Yang, C. C.; Lee, N. C.; Tsai, L. K.; Huang, A. C.; Su, S. C.; Tseng, C. C.; Hwu, W. L.; 胡務亮; 楊智超; 曾嫦嫦; 彭信逢; 蔡力凱; 蘇淑貞; 李妮鍾; 黃愛珠; 簡穎秀
臺大學術典藏	2013	Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)	Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P.
臺大學術典藏	2013	Analysis of lyso-globotriaosylsphingosine in dried blood spots	Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN; Mar?di L.; Hwu W.-L.; Bodamer O.A.
臺大學術典藏	2013	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	Lee N.-C.; Shieh Y.-D.; YIN-HSIU CHIEN; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.
臺大學術典藏	2013	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; YIN-HSIU CHIEN; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; Lee N.-C.

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