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

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机构	日期	题名	作者
臺大學術典藏	2020-12-09T01:38:06Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K.
臺大學術典藏	2020-12-09T01:38:06Z	Composite Scores of Plasma Tau and β-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.;Ni-Chung Lee;Chiu M.-J.; Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE; Chiu M.-J.
臺大學術典藏	2020-12-09T01:38:05Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Chen S.-J.;Lee B.-C.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Lin C.-H.; Chen S.-J.; Lee B.-C.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Lin C.-H.
臺大學術典藏	2020-12-09T01:38:05Z	The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan	Chiang S.-C.;Chien Y.-H.;Chang K.-L.;Ni-Chung Lee;Hwu W.-L.; Chiang S.-C.; Chien Y.-H.; Chang K.-L.; NI-CHUNG LEE; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:04Z	De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome	Kao H.-J.;Chiang H.-L.;Chen H.-H.;Fan P.-C.;Tu Y.-F.;Chou Y.-Y.;Hwu W.-L.;Lin C.-L.;Kwok P.-Y.;Ni-Chung Lee; Kao H.-J.; Chiang H.-L.; Chen H.-H.; Fan P.-C.; Tu Y.-F.; Chou Y.-Y.; Hwu W.-L.; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:04Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	Weng H.-L.;Yang F.-J.;Chien Y.-H.;Chen P.-R.;Lin Z.-X.;Ni-Chung Lee;Hwu W.-L.; Weng H.-L.; Yang F.-J.; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; NI-CHUNG LEE; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:04Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Kuo C.-W.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Hung M.-Z.;Lin I.-L.;Lai F.;Ni-Chung Lee; Kuo C.-W.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:03Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	Chen P.-R.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Weng H.-L.; Yang F.-J.; Weng H.-L.;Yang F.-J.;Chen P.-R.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:03Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Ni-Chung Lee;Peng W.-H.;Tsai L.-K.;Lu Y.-H.;Wang H.-C.;Shih Y.-C.;Pung Z.-X.;Hu H.-Y.;Hwu W.-L.;Tseng W.-Y.I.;Chien Y.-H.; NI-CHUNG LEE; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏	2020-12-08T03:29:01Z	Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese	Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lin S.-J.;Frank Leigh Lu;Chou S.-P.;Lin J.-M.;Chiang S.-H.;Hwu W.-L.; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lin S.-J.; FRANK LEIGH LU; Chou S.-P.; Lin J.-M.; Chiang S.-H.; Hwu W.-L.
臺大學術典藏	2020-12-08T03:29:01Z	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Frank Leigh Lu;Chen H.-L.;Ho M.-J.;Lee P.-H.;Hwu W.-L.; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; FRANK LEIGH LU; Chen H.-L.; Ho M.-J.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-12-08T03:29:00Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Frank Leigh Lu;Lee W.-T.;Hwu W.-L.; Chien Y.-H.; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU; Lee W.-T.; Hwu W.-L.
臺大學術典藏	2020-12-08T03:28:57Z	Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort	FRANK LEIGH LU; Wu E.-T.; Hwu W.-L.; Wang C.-C.; Wang C.-C.;Hwu W.-L.;Wu E.-T.;Frank Leigh Lu;Wang J.-K.;Wu M.-H.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-11-30T07:35:55Z	Plasma chitotriosidase activity and malaria (multiple letters)	Chien Y.-H.;Jen-Hau Chen;Hwu W.-L.;Musumeci S.; Chien Y.-H.; JEN-HAU CHEN; Hwu W.-L.; Musumeci S.
臺大學術典藏	2020-11-19T03:42:58Z	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hwu W.-L.; PO-HUANG LEE; Ho M.-J.; Chen H.-L.; Lu F.L.; Chu S.-Y.; Chien Y.-H.; Hsui J.-Y.; Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Po-Huang Lee;Hwu W.-L.
臺大學術典藏	2020-11-19T03:20:19Z	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.;Po-Huang Lee;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; PO-HUANG LEE; Hwu W.-L.
臺大學術典藏	2020-11-19T03:19:45Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Chen P.W.; Hwu W.L.; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; PO-HUANG LEE
臺大學術典藏	2020-11-03T12:37:58Z	Valproic acid treatment in six patients with spinal muscular atrophy [5]	Li H.; Hwu W.-L.; LI-KAI TSAI; Yang C.-C.
臺大學術典藏	2020-11-03T12:37:58Z	Adenoviral interneuronal transportation after retrograde gene transfer in mice	Hwu W.-L.; Li H.; Shyue S.-K.; Tsai M.-S.; LI-KAI TSAI; Li-Kai Tsai;Tsai M.-S.;Shyue S.-K.;Hwu W.-L.;Li H.
臺大學術典藏	2020-11-03T12:37:58Z	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	Li-Kai Tsai;Tsai M.-S.;Lin T.-B.;Hwu W.-L.;Li H.; LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H.
臺大學術典藏	2020-11-03T12:37:57Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	Li H.; Hwu W.-L.; Su Y.-N.; Ting C.-H.; Yang C.-C.; LI-KAI TSAI
臺大學術典藏	2020-11-03T12:37:57Z	Myopathy in Gaucher disease	Yang C.-C.; Chien Y.-H.; LI-KAI TSAI; Hwu W.-L.
臺大學術典藏	2020-11-03T12:37:55Z	IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice	Passini M.A.; Cheng S.H.; Hwu W.-L.; Dodge J.C.; Ting C.-H.; LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.
臺大學術典藏	2020-11-03T12:37:52Z	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice	Passini M.A.; Dodge J.C.; Hwu W.-L.; Lin-Chao S.; Ting C.-H.; Chen C.-L.; LI-KAI TSAI; Li-Kai Tsai;Chen C.-L.;Ting C.-H.;Lin-Chao S.;Hwu W.-L.;Dodge J.C.;Passini M.A.;Cheng S.H.; Cheng S.H.
臺大學術典藏	2020-11-03T12:37:43Z	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.;Li-Kai Tsai;Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H.
臺大學術典藏	2020-11-03T12:37:41Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Liou H.-H.; Lee N.-C.; Muramatsu S.-I.; LI-KAI TSAI; Ho S.-Y.;Chien Y.-H.;Li-Kai Tsai;Muramatsu S.-I.;Hwu W.-L.;Liou H.-H.;Lee N.-C.; Ho S.-Y.; Chien Y.-H.
臺大學術典藏	2020-11-03T12:37:40Z	Clinical features of Pompe disease with motor neuronopathy	Huang P.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; LI-KAI TSAI; Li-Kai Tsai;Hwu W.-L.;Lee N.-C.;Huang P.-H.;Chien Y.-H.
臺大學術典藏	2020-11-03T12:21:56Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu R.-M.;Shan D.-E.;Sun C.-M.;Liu R.-S.;Hwu W.-L.;Chun-Hwei Tai;Hussey J.;West A.;Gwinn-Hardy K.;Hardy J.;Chen J.;Farrer M.;Lincoln S.; Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; Hwu W.-L.; CHUN-HWEI TAI; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.
臺大學術典藏	2020-11-03T12:21:51Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Wu R.-M.; CHUN-HWEI TAI; Byrne B.J.; Snyder R.O.; Chien Y.-H.; Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.
臺大學術典藏	2020-11-03T12:21:48Z	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.; 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	2020-11-03T12:21:47Z	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.; CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H.
臺大學術典藏	2020-11-03T12:12:58Z	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	2020-11-03T11:57:03Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Ming-Jang Chiu; Lee N.-C.; MING-JANG CHIU et al.
臺大學術典藏	2020-11-03T11:56:53Z	Composite Scores of Plasma Tau and β-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; 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	2020-11-03T11:32:31Z	Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C	Su Y.-N.; Chiou P.-C.; Yang C.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏	2020-11-02T02:05:18Z	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.; MING-SHIANG WU
臺大學術典藏	2020-10-26T11:49:59Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	Tseng S.-H.; Hwu W.-L.; RUEY-MEEI WU; Tai C.-H.; Tai C.-H.;Hwu W.-L.;Ruey-Meei Wu;Tseng S.-H.
臺大學術典藏	2020-10-26T11:34:27Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	JYH-MING JIMMY JUANG; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2020-10-23T03:49:06Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; PO-NIEN TSAO; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2020-09-22T09:06:23Z	Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease	STEVEN SHINN-FORNG PENG; Li Y.-W.; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:23Z	Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation	Hsu Y.-S.;Hwu W.-L.;Huang S.-F.;Lu M.-Y.;Chen R.-L.;Lin D.-T.;Steven Shinn-Forng Peng;Lin K.-H.; Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; STEVEN SHINN-FORNG PENG; Lin K.-H.
臺大學術典藏	2020-09-22T09:06:19Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Hwu W.-L.; Wang T.-R.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Chien Y.-H.;Steven Shinn-Forng Peng;Wang T.-R.;Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:16Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Steven Shinn-Forng Peng;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.
臺大學術典藏	2020-09-22T09:06:16Z	Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children	Liang J.-S.;Lee W.-T.;Hwu W.-L.;Steven Shinn-Forng Peng;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; Lee W.-T.; Hwu W.-L.; STEVEN SHINN-FORNG PENG; Chu L.-W.; Wang P.-J.; Shen Y.-Z.
臺大學術典藏	2020-09-22T09:06:13Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Lee N.-C.;Steven Shinn-Forng Peng;Hwu W.-L.; Chien Y.-H.; Lee N.-C.; STEVEN SHINN-FORNG PENG; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:12Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chen S.J.; Hwu W.L.; STEVEN SHINN-FORNG PENG; Huang A.C.; Tsai L.K.; Lee N.C.; Chien Y.H.; Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Steven Shinn-Forng Peng;Chen S.J.;Hwu W.L.
臺大學術典藏	2020-09-22T09:06:11Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Hwu W.-L.; Tseng S.-C.; Hsu L.-W.; Wu A.S.-H.; Chen L.-C.; Huang A.-C.; Liu T.-T.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-09-22T09:06:10Z	Schizencephaly in LEOPARD Syndrome	STEVEN SHINN-FORNG PENG; Liang J.-S.;Chien Y.-H.;Hwu W.-L.;Yeh S.-J.;Steven Shinn-Forng Peng; Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J.
臺大學術典藏	2020-09-22T09:06:08Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.;Tsai W.-Y.;Steven Shinn-Forng Peng;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; STEVEN SHINN-FORNG PENG; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:06Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	STEVEN SHINN-FORNG PENG; Weng W.-C.; Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.

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