| 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. |
| 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. |
