臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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機構	日期	題名	作者
臺大學術典藏	2020-03-05T01:18:05Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI; Wu R.-M.
臺大學術典藏	2020-03-05T01:18:01Z	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.; Tseng S.-H.; CHUN-HWEI TAI; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-03-05T01:17:59Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H.
臺大學術典藏	2020-03-04T07:45:12Z	Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population	Chen S.-J.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN
臺大學術典藏	2020-03-04T07:45:11Z	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Wu R.-M.; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN; Hwu W.-L.; Chen J.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏	2020-03-04T07:45:10Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	CHIN-HSIEN LIN; Hwu W.-L.; Chiang S.-C.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-03-04T05:35:18Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K.; Wu Y.R.; Hwu W.L.; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; MING-JANG CHIU; Lu C.J.; Lee-Chen G.J.
臺大學術典藏	2020-03-04T05:34:56Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Huang A.-C.; Chien Y.-H.; Hwu W.-L.; MING-JANG CHIU; Chiu Y.-N.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.
臺大學術典藏	2020-03-04T05:34:46Z	Composite Scores of Plasma Tau and �]-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; MING-JANG CHIU
臺大學術典藏	2020-03-03T03:06:54Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Peng S.S.-F.;Wen-Yih Tseng;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; Peng S.S.-F.; WEN-YIH TSENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M.
臺大學術典藏	2020-03-03T03:06:22Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; WEN-YIH TSENG; Hwu W.-L.
臺大學術典藏	2020-03-03T02:33:35Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏	2020-03-03T02:33:35Z	Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C	Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏	2020-03-03T01:14:51Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; Wu R.M; TA-FU CHEN; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J.
臺大學術典藏	2020-02-27T01:50:09Z	Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.;Chen P.-H.;Hwu W.-L.;Chuang C.-Y.;Chien Y.-H.;Stone L.;Chung-Liang Chien;Li L.-T.;Chiang S.-C.;Chen H.-F.;Ho H.-N.;Chen C.-H.;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2020-02-27T01:50:09Z	Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P. ;Chen P.-H. ;Hwu W.-L. ;Chuang C.-Y. ;Chien Y.-H. ;Stone L. ;Chung-Liang Chien ;Li L.-T. ;Chiang S.-C. ;Chen H.-F. ;Ho H.-N. ;Chen C.-H. ;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2020-02-26T07:30:05Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Ho S.-Y; Chien Y.-H; Tsai L.-K; Muramatsu S.-I; Hwu W.-L; HORNG-HUEI LIOU; Lee N.-C.
臺大學術典藏	2020-02-25T08:01:46Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Ruey-Meei Wu;Shan D.-E;Sun C.-M;Liu R.-S;Hwu W.-L;Tai C.-H;Hussey J;West A;Gwinn-Hardy K;Hardy J;Chen J;Farrer M;Lincoln S.; RUEY-MEEI WU; Shan D.-E; Sun C.-M; Liu R.-S; Hwu W.-L; Tai C.-H; Hussey J; West A; Gwinn-Hardy K; Hardy J; Chen J; Farrer M; Lincoln S.
臺大學術典藏	2020-02-25T08:01:45Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K;Wu Y.R;Hwu W.L;Chen C.M;Ro L.S;Chen S.T;Gwinn-Hardy K;Yang C.C;Ruey-Meei Wu;Chen T.F;Wang H.C;Chao M.C;Chiu M.J;Lu C.J;Lee-Chen G.J.; Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; RUEY-MEEI WU; Chen T.F; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J.
臺大學術典藏	2020-02-25T08:01:44Z	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Ruey-Meei Wu;Bounds R;Lincoln S;Hulihan M;Lin C.-H;Hwu W.-L;Chen J;Gwinn-Hardy K;Farrer M.; RUEY-MEEI WU; Bounds R; Lincoln S; Hulihan M; Lin C.-H; Hwu W.-L; Chen J; Gwinn-Hardy K; Farrer M.
臺大學術典藏	2020-02-25T08:01:42Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Lin C.-H; Hwu W.-L; Chiang S.-C; Tai C.-H; RUEY-MEEI WU
臺大學術典藏	2020-02-25T08:01:29Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L; Muramatsu S.-I; Tseng S.-H; Tzen K.-Y; Lee N.-C; Chien Y.-H; Snyder R.O; Byrne B.J; Tai C.-H; RUEY-MEEI WU
臺大學術典藏	2020-02-24T01:33:42Z	Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups	Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Rey-Heng Hu;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; REY-HENG HU; Ho M.-C.; Niu D.-M.
臺大學術典藏	2020-02-19T09:34:00Z	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.;Ming-Chih Ho;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; MING-CHIH HO; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-02-19T09:33:54Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Chen P.W.; Hwu W.L.; MING-CHIH HO; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H.

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