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Showing items 321-345 of 770 (31 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-18T02:21:59Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	Chien Y.-H.; Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Lu F.-L.;Wang-Tso Lee;Hwu W.-L.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; WANG-TSO LEE; Hwu W.-L.
臺大學術典藏	2020-12-18T02:21:58Z	Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children	Liang J.-S.;Wang-Tso Lee;Hwu W.-L.;Peng S.S.-F.;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; WANG-TSO LEE; Hwu W.-L.; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z.
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	2020-12-18T02:21:50Z	Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency	Hwu W.L.; Choy Y.S.; Ch'Ng G.S.; Keng W.T.; Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Hwu W.L.;Wang-Tso Lee;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; WANG-TSO LEE; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N.
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	2020-12-17T08:17:55Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	CHING-CHIA WANG; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Ko W.-J.; Huang S.-C.
臺大學術典藏	2020-12-17T08:17:54Z	Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort	Wu M.-H.; CHING-CHIA WANG; Hwu W.-L.; Wu E.-T.; Lu F.; Wang J.-K.
臺大學術典藏	2020-12-17T02:28:40Z	Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010	Tsai Y.-C.; Hwu W.-L.; HSIN-HUI YU; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Lin C.-Y.; Wu K.-H.; Huang Y.-C.; Chiu C.-H.; Lin T.-Y.; Yao T.-C.; Ou L.-S.; Chen L.-C.; Yeh K.-W.; Lin S.-J.; Shieh C.-C.; Chiou S.-S.; Soong W.-J.; 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. ;Hsin-Hui Yu ;Yang Y.-H. ;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.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.
臺大學術典藏	2020-12-17T02:28:33Z	Incidence of severe combined immunodeficiency through newborn screening in a Chinese population	Chien Y.-H.;Chiang S.-C.;Chang K.-L.;Hsin-Hui Yu;Lee W.-I.;Tsai L.-P.;Hsu L.-W.;Hu M.-H.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.
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	2020-12-16T07:22:11Z	Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation	Hsu Y.-S.;Hwu W.-L.;Huang S.-F.;Meng-Yao Lu;Chen R.-L.;Lin D.-T.;Peng S.S.F.;Lin K.-H.; Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; MENG-YAO LU; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H.
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	2020-12-09T09:01:15Z	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.;Wang J.-K.;Chen L.-R.;Chun-Wei Lu;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; CHUN-WEI LU; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2020-12-09T05:58:48Z	Neonatal type of nonketotic hyperglycinemia	Frank Leigh Lu;Wang P.-J.;Hwu W.-L.;Tsou Yau K.-I.;Wang T.-R.; FRANK LEIGH LU; Wang P.-J.; Hwu W.-L.; Tsou Yau K.-I.; Wang T.-R.
臺大學術典藏	2020-12-09T02:07:52Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	MENG-JU LI; Lee N.-C.; Yang Y.-L.; 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	2020-12-09T01:38:43Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Ni-Chung Lee;Peng S.-F.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Peng S.-F.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:43Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Ni-Chung Lee;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:42Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	Chien Y.-H.;Ni-Chung Lee;Wu S.-T.;Liou J.-J.;Chen H.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.

Showing items 321-345 of 770 (31 Page(s) Totally)
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