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Institution Date Title Author
臺大學術典藏 2021-01-08T07:28:11Z Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center Liu M.-Y.;Cheng-Ting Lee;Lee N.-C.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu M.-Y.; CHENG-TING LEE; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏 2021-01-08T06:17:26Z Slipped capital femoral epiphysis as a complication of growth hormone therapy. Wang S.Y.; YI-CHING TUNG; Tsai W.Y.; Chien Y.H.; Lee J.S.; Hwu W.L.
臺大學術典藏 2021-01-08T06:17:23Z Congenital hypopituitarism due to POU1F1 gene mutation Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.
臺大學術典藏 2021-01-08T06:17:20Z Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan Tsai W.-Y.; Chen P.-L.; Hwu W.-L.; Yang W.-S.; Chu C.-C.; Chang C.-C.; Fann C.S.-J.; YI-CHING TUNG; Yi-Ching Tung;Fann C.S.-J.;Chang C.-C.;Chu C.-C.;Yang W.-S.;Hwu W.-L.;Chen P.-L.;Tsai W.-Y.
臺大學術典藏 2021-01-08T06:17:20Z Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening Liu S.-Y.;Lee C.-T.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏 2021-01-08T06:17:19Z Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum Lee C.-T.;Yi-Ching Tung;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; YI-CHING TUNG; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; 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 2021-01-08T06:17:19Z SHOX deficiency in short Taiwanese children: A single-center experience Yi-Ching Tung;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; YI-CHING TUNG; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏 2021-01-07T06:09:28Z Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area Lee C.?Y.; Kao C.?L.; Hwu W.?L.; Chang M.?H.; PING-ING LEE
臺大學術典藏 2021-01-06T08:24:03Z Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings YAO-HSU YANG; Chien Y.-H.; Chien Y.-H.;Yao-Hsu Yang;Hwu W.-L.;Chou C.-C.;Chiang B.-L.; Hwu W.-L.; Chou C.-C.; Chiang B.-L.
臺大學術典藏 2021-01-06T08:23:40Z Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010 Lee W.-I. ;Huang J.-L. ;Jaing T.-H. ;Shyur S.-D. ;Yang K.D. ;Chien Y.-H. ;Chiang B.-L. ;Soong W.-J. ;Chiou S.-S. ;Shieh C.-C. ;Lin S.-J. ;Yeh K.-W. ;Chen L.-C. ;Ou L.-S. ;Yao T.-C. ;Lin T.-Y. ;Chiu C.-H. ;Huang Y.-C. ;Wu K.-H. ;Lin C.-Y. ;Yu H.-H. ;Yao-Hsu Yang ;Yu H.-R. ;Yen H.-J. ;Hsieh M.-Y. ;Kuo M.-L. ;Hwu W.-L. ;Tsai Y.-C. ;Kuo H.-C. ;Lin Y.-L. ;Shih Y.-F. ;Chang K.-W.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; YAO-HSU YANG; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.
臺大學術典藏 2021-01-06T08:23:25Z Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yao-Hsu Yang;Hwu W.-L.;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; YAO-HSU YANG; Hwu W.-L.; Chiang B.-L.
臺大學術典藏 2021-01-06T06:51:53Z Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation Tang N.L.S.; CHUN-AN CHEN; Chun-An Chen;Tang N.L.S.;Chen Y.-H.;Zhang W.-M.;Wang J.-K.;Hwu W.-L.; Chen Y.-H.; Zhang W.-M.; Wang J.-K.; Hwu W.-L.
臺大學術典藏 2021-01-06T06:51:49Z Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chun-An Chen;Chiu S.-N.;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.; CHUN-AN CHEN; Chiu S.-N.; Chien Y.-H.
臺大學術典藏 2021-01-06T06:51:46Z Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chun-An Chen;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; CHUN-AN CHEN; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.
臺大學術典藏 2021-01-06T06:51:44Z Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy Wu M.-H.; Chiu H.-H.; Chiu S.-N.; Lin M.-T.; Lu C.-W.; Chen L.-R.; Wang J.-K.; Chun-An Chen ;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. ;Wu M.-H.; CHUN-AN CHEN; Chien Y.-H.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2021-01-06T05:50:54Z Congenital contractural arachnodactyly (Beals syndrome) Su P.-H.;Hou J.-W.;Hwu W.-L.;Wu M.-H.;Jou-Kou Wang;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; Wu M.-H.; JOU-KOU WANG; Wang T.-R.
臺大學術典藏 2021-01-06T05:50:51Z Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1] Wu C.-H.;Hwu W.-L.;Jou-Kou Wang;Young C.;Peng S.S.-F.;Kuo M.-F.; Wu C.-H.; Hwu W.-L.; JOU-KOU WANG; Young C.; Peng S.S.-F.; Kuo M.-F.
臺大學術典藏 2021-01-06T05:46:50Z Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation Chen C.-A.;Tang N.L.S.;Chen Y.-H.;Zhang W.-M.;Jou-Kou Wang;Hwu W.-L.; Chen C.-A.; Tang N.L.S.; Chen Y.-H.; Zhang W.-M.; JOU-KOU WANG; Hwu W.-L.
臺大學術典藏 2021-01-06T05:46:42Z 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.; JOU-KOU WANG; Wu M.-H.
臺大學術典藏 2021-01-06T05:46:39Z Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease Wu M.-H.; JOU-KOU WANG; Chien Y.-H.; Hwu W.-L.; Wu E.-T.; Chiu S.-N.; Wang C.-C.; Huang P.-K.
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.

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