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

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	Repositories
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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	機構典藏計畫網站
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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:58Z	[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].	Song Y.Z.;Sheng J.S.;Ushikai M.;Wuh-Liang Hwu;Zhang C.H.;Kobayashi K.; Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU; Zhang C.H.; Kobayashi K.
臺大學術典藏	2020-12-16T02:25:58Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	Chien Y.-H.;Lee N.-C.;Wu S.-T.;Liou J.-J.;Chen H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:58Z	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.;Wuh-Liang Hwu;Huang Y.-T.;Huang A.-C.;Wang S.-F.;Hu M.-H.;Chien Y.-H.; Hsieh C.-T.; WUH-LIANG HWU; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:58Z	Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein	Chiou Y.-W.;Wuh-Liang Hwu;Lee Y.-M.; Chiou Y.-W.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:57Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.;Wang C.-C.;Chiu S.-N.;Wu E.-T.;Chien Y.-H.;Wuh-Liang Hwu;Wang J.-K.;Wu M.-H.; Huang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:57Z	Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders	Bodamer O.;De Jesus V.;Keutzer J.;Zhang K.;Wuh-Liang Hwu;M?Hl A.; Bodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU; M?hl A.
臺大學術典藏	2020-12-16T02:25:57Z	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence	Ralston E.;Swaim B.;Czapiga M.;Wuh-Liang Hwu;Chien Y.-H.;Pittis M.G.;Bembi B.;Schwartz O.;Plotz P.;Raben N.; Ralston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU; Chien Y.-H.; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.
臺大學術典藏	2020-12-16T02:25:57Z	Alglucosidase Alfa (Myozyme?) in Infants and Children with Rapidly Progressive Pompe Disease	Corzo D.;Byrne B.;Wuh-Liang Hwu;Leslie N.;Mandel H.;Nicolino M.; Corzo D.; Byrne B.; WUH-LIANG HWU; Leslie N.; Mandel H.; Nicolino M.
臺大學術典藏	2020-12-16T02:25:56Z	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients	Lin W.-D.;Lin S.-P.;Wang C.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-J.;Tsai Y.;Chen C.-P.;Tsai F.-J.; Lin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:56Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:56Z	Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II	Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:56Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.;Chen H.-L.;Ni Y.-H.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-16T02:25:55Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.;Wu E.-T.;Chiu S.;Wuh-Liang Hwu;Wu M.-H.;Wang S.-S.; Huang S.-C.; Wu E.-T.; Chiu S.; WUH-LIANG HWU; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-12-16T02:25:55Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Lee N.-C.;Wuh-Liang Hwu;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU; Fan P.-C.; Lee W.-T.
臺大學術典藏	2020-12-16T02:25:55Z	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Chen H.-L.;Wang R.;Chen H.-L.;Wuh-Liang Hwu;Jeng Y.-M.;Chang M.-H.;Ling V.; Chen H.-L.; Wang R.; Chen H.-L.; WUH-LIANG HWU; Jeng Y.-M.; Chang M.-H.; Ling V.
臺大學術典藏	2020-12-16T02:25:55Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:54Z	Myopathy in Gaucher disease	Tsai L.-K.;Chien Y.-H.;Yang C.-C.;Wuh-Liang Hwu; Tsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Web Services based newborn screening system with Support Vector Machines	Hsieh S.-H.;Hsieh S.-L.;Weng Y.-C.;Chien Y.-H.;Wang Z.;Chen P.-H.;Chang H.-Y.;Lai F.;Wuh-Liang Hwu; Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Screening for pompe disease and fabry disease	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:53Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Lee N.C.; Chang T.C.; Chien Y.H.; WUH-LIANG HWU; Chien Y.H.; Huang H.P.
臺大學術典藏	2020-12-16T02:25:53Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	Lee N.-C.;Dimmock D.;Wuh-Liang Hwu;Tang L.-Y.;Huang W.-C.;Chinault A.C.;Wong L.-J.C.; Lee N.-C.; Dimmock D.; WUH-LIANG HWU; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-16T02:25:53Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Chen S.-T.;Fan P.-C.;Wuh-Liang Hwu;Wu M.-H.; Chen S.-T.; Fan P.-C.; WUH-LIANG HWU; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:53Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:52Z	Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report	Lin L.-C.; WUH-LIANG HWU; Yang R.-C.

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