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
	ROAR
	OpenDOAR
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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	2020-12-18T05:28:48Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Chien Y.-H.; Lee N.-C.; Lam C.-W.; Hwu W.-L.; HSIU-HAO CHANG; Hsiao H.-J.
臺大學術典藏	2020-12-18T05:28:40Z	Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia	Lu M.-Y.; Jou S.-T.; Li M.-J.; Yang Y.-L.; Lee N.-C.; HSIU-HAO CHANG; Lin K.-H.; Peng C.-T.; Lin D.-T.
臺大學術典藏	2020-12-18T05:28:40Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Lin D.-T.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; HSIU-HAO CHANG; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Li M.-J.
臺大學術典藏	2020-12-18T02:21:52Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Lee N.-C.;Hwu W.-L.;Fan P.-C.;Wang-Tso Lee; Wang S.-B.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; Fan P.-C.; WANG-TSO LEE
臺大學術典藏	2020-12-18T02:21:48Z	Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia	Wei S.-H.;Weng W.-C.;Lee N.-C.;Hwu W.-L.;Wang-Tso Lee; Wei S.-H.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; WANG-TSO LEE
臺大學術典藏	2020-12-18T02:21:47Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Chien Y.-H.; Lee N.-C.; Huang P.-H.; WANG-TSO LEE; Thurberg B.L.; Hwu W.-L.
臺大學術典藏	2020-12-18T02:21:47Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; WANG-TSO LEE; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-18T02:21:43Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	WANG-TSO LEE; Wu C.-S.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Weng W.-C.; Fan P.-C.; 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	2020-12-18T02:21:38Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chiang S.-C.; Chien Y.-H.; Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Wang-Tso Lee;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-18T02:21:33Z	CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening	Weng W.-C.;Hsu Y.-K.;Chang F.-M.;Lin C.-Y.;Hwu W.-L.;Wang-Tso Lee;Lee N.-C.;Chien Y.-H.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L.; WANG-TSO LEE; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-17T02:28:30Z	Newborn screening for severe combined immunodeficiency in Taiwan	Chien Y.-H.; HSIN-HUI YU; 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.; Chien Y.-H.;Hsin-Hui Yu;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	2020-12-17T02:28:29Z	Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency	Hsin-Hui Yu;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Chiang B.-L.; HSIN-HUI YU; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chiang B.-L.
臺大學術典藏	2020-12-16T07:21:51Z	Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia	Li M.-J.; Yang Y.-L.; Lee N.-C.; Jou S.-T.; MENG-YAO LU; Chang H.-H.; Lin K.-H.; Peng C.-T.; Lin D.-T.
臺大學術典藏	2020-12-16T07:21:51Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; MENG-YAO LU; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.
臺大學術典藏	2020-12-16T07:21:49Z	Newborn screening for severe combined immunodeficiency in Taiwan	Chien Y.-H.;Yu H.-H.;Lee N.-C.;Ho H.-C.;Kao S.-M.;Meng-Yao Lu;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Hwu W.-L.; Chien Y.-H.; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; MENG-YAO LU; 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	2020-12-16T02:26:04Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Lee N.-C.;Peng S.-F.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Peng S.-F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:04Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:02Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Wuh-Liang Hwu; Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:01Z	Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.	Wuh-Liang Hwu;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Lee N.C.; WUH-LIANG HWU; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; Lee N.C.
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	2020-12-16T02:25:56Z	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	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	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	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	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

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