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.

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