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	2021-01-06T05:46:37Z	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.; Hwu W.-L.; JOU-KOU WANG; Wu M.-H.
臺大學術典藏	2021-01-06T05:46:31Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; JOU-KOU WANG; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2021-01-06T05:46:06Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Jou-Kou Wang;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.; Lee N.-C.; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; JOU-KOU WANG; 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.
臺大學術典藏	2021-01-06T03:39:00Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; Lee N.-C.; YUNG-LI YANG; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.
臺大學術典藏	2021-01-06T03:38:55Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; YUNG-LI YANG; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2021-01-05T08:07:57Z	Congenital contractural arachnodactyly (Beals syndrome)	Su P.-H.;Hou J.-W.;Hwu W.-L.;Mei-Hwan Wu;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; MEI-HWAN WU; Wang J.-K.; Wang T.-R.
臺大學術典藏	2021-01-05T08:07:31Z	Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort	Wang C.-C.;Hwu W.-L.;Wu E.-T.;Lu F.;Wang J.-K.;Mei-Hwan Wu; Wang C.-C.; Hwu W.-L.; Wu E.-T.; Lu F.; Wang J.-K.; MEI-HWAN WU
臺大學術典藏	2021-01-05T08:07:27Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Hsieh W.-S.; Tsao L.-Y.; Lin M.-T.; MEI-HWAN WU; Chien Y.-H.; Hwu W.-L.; Yen T.-Y.; Yen T.-Y.;Hwu W.-L.;Chien Y.-H.;Mei-Hwan Wu;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Lee N.-C.
臺大學術典藏	2021-01-05T08:07:25Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Chen S.-T.; Chen S.-T.;Fan P.-C.;Hwu W.-L.;Mei-Hwan Wu; Fan P.-C.; Hwu W.-L.; MEI-HWAN WU
臺大學術典藏	2021-01-05T08:07:24Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chien Y.-H.; Chiu S.-N.; Chen C.-A.; Chen L.-R.; Chen L.-R.;Chen C.-A.;Chiu S.-N.;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Mei-Hwan Wu; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; MEI-HWAN WU
臺大學術典藏	2021-01-05T08:07:22Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2021-01-05T08:07:15Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Lee N.-C.; Hwu W.-L.; Chien Y.-H.; Chen C.-A.; Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Lee N.-C.;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Mei-Hwan Wu; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; MEI-HWAN WU
臺大學術典藏	2021-01-05T06:41:17Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Wen-Chin Weng;Lee N.-C.;Hwu W.-L.;Fan P.-C.;Lee W.-T.; Wang S.-B.; WEN-CHIN WENG; Lee N.-C.; Hwu W.-L.; Fan P.-C.; Lee W.-T.
臺大學術典藏	2021-01-05T06:41:09Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Hsiue H.-C.;Lee N.-C.;Tsai H.-B.;Yang C.-C.;Wu C.-S.;Lee W.-T.;Wen-Chin Weng;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.; Fan P.-C.; WEN-CHIN WENG; Lee W.-T.; Wu C.-S.; Yang C.-C.; Tsai H.-B.; Lee N.-C.; Hsiue H.-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	2021-01-05T06:41:06Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chien Y.-H.;Chiang S.-C.;Wen-Chin Weng;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Chien Y.-H.; Hwu W.-L.; Ko T.-M.; Jong Y.-J.; Lee W.-T.; Hsieh W.-S.; Lin C.-J.; Chiang S.-C.; WEN-CHIN WENG; Lee N.-C.
臺大學術典藏	2021-01-04T07:41:07Z	Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area	Lee P.?I.; MEI-HWEI CHANG; Hwu W.?L.; Kao C.?L.; Lee C.?Y.
臺大學術典藏	2021-01-04T07:38:59Z	Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096))	MEI-HWEI CHANG; Chang S.-M.; Wang T.-R.; Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.
臺大學術典藏	2021-01-04T07:38:56Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia	Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:56Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la	Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:55Z	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Tsai S.Y.;Jeng Y.M.;Hwu W.L.;Ni Y.H.;Mei-Hwei Chang;Wang T.R.; Tsai S.Y.; Jeng Y.M.; Hwu W.L.; Ni Y.H.; MEI-HWEI CHANG; Wang T.R.
臺大學術典藏	2021-01-04T07:38:43Z	Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia	Chiang S.-C.;Lee Y.-M.;Mei-Hwei Chang;Wang T.-R.;Ko T.-M.;Hwu W.-L.; Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG; Wang T.-R.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2021-01-04T07:38:43Z	Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations	Hwu W.-L.;Chiang S.-C.;Huang S.-F.;Mei-Hwei Chang;Wen W.-H.;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG; Wen W.-H.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:42Z	Carnitine transport defect presenting with hyperammonemia: Report of one case	Hwu W.-L.;Chiang S.-C.;Mei-Hwei Chang;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; MEI-HWEI CHANG; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:41Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.;Huang S.-F.;Hwu W.-L.;Hou J.-W.;Ni Y.-H.;Mei-Hwei Chang; Chang P.-F.; Huang S.-F.; Hwu W.-L.; Hou J.-W.; Ni Y.-H.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:38:41Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Ni Y.-H.; Yang T.-Y.; Chen H.-L.; Yang T.-Y.;Chen H.-L.;Ni Y.-H.;Hwu W.-L.;Mei-Hwei Chang; Hwu W.-L.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:16Z	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.;Mei-Hwei Chang;Ho M.-C.;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; MEI-HWEI CHANG; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2021-01-04T07:36:13Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Yeh J.-N.; Jeng Y.-M.; Chen H.-L.; Ni Y.-H.; Hwu W.-L.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:12Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	MEI-HWEI CHANG; Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.
臺大學術典藏	2021-01-04T07:36:05Z	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.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:04Z	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.; Hwu W.-L.; Jeng Y.-M.; MEI-HWEI CHANG; Ling V.
臺大學術典藏	2021-01-04T07:36:01Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; MEI-HWEI CHANG; Hwu W.-L.
臺大學術典藏	2021-01-04T07:33:46Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; MEI-HWEI CHANG
臺大學術典藏	2020-12-28T08:15:08Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Yang T.-Y.;Chen H.-L.;Yen-Hsuan Ni;Hwu W.-L.;Chang M.-H.; Yang T.-Y.; Chen H.-L.; YEN-HSUAN NI; Hwu W.-L.; Chang M.-H.
臺大學術典藏	2020-12-28T08:15:08Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.; Chang P.-F.;Huang S.-F.;Hwu W.-L.;Hou J.-W.;Yen-Hsuan Ni;Chang M.-H.; Huang S.-F.; Hwu W.-L.; Hou J.-W.; YEN-HSUAN NI; Chang M.-H.
臺大學術典藏	2020-12-28T08:14:48Z	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.;Yen-Hsuan Ni;Chang M.-H.;Ho M.-C.;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; YEN-HSUAN NI; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-12-28T08:14:46Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	YEN-HSUAN NI; Hwu W.-L.; Chang M.-H.; Yeh J.-N.;Jeng Y.-M.;Chen H.-L.;Yen-Hsuan Ni;Hwu W.-L.;Chang M.-H.; Yeh J.-N.; Jeng Y.-M.; Chen H.-L.
臺大學術典藏	2020-12-28T08:14:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chang M.-H.; Chiu P.-C.; Huang Y.-T.; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Chen H.-W.; Chen H.-L.; YEN-HSUAN NI; Chen H.-W.;Chen H.-L.;Yen-Hsuan Ni;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.
臺大學術典藏	2020-12-28T08:14:36Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Hwu W.L.; Chen P.W.; Ho M.C.; Lee N.C.; Chien Y.H.; YEN-HSUAN NI; Lee P.H.
臺大學術典藏	2020-12-28T07:56:38Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Hwu W.-L.; Chen Y.-S.; JYH-MING JIMMY JUANG; Shun C.-T.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2020-12-24T06:17:24Z	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant	YIN-HSIU CHIEN; Chu S.-Y.; Hsu C.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:24Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:23Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:23Z	Cockayne syndrome in a family	YIN-HSIU CHIEN; Chou H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan	Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease	Hwu W.-L.; Lai M.-Y.; YIN-HSIU CHIEN; Hsu C.-C.
臺大學術典藏	2020-12-24T06:17:21Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chiang B.-L.; Chou C.-C.; Hwu W.-L.; Yang Y.-H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:20Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏	2020-12-24T06:17:20Z	Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Chiang S.-C.; Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:20Z	Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.; Chiang S.-C.
臺大學術典藏	2020-12-24T06:17:19Z	Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.	YIN-HSIU CHIEN; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L.

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