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	2020-12-21T01:58:25Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Hwu W.-L.; PI-CHUAN FAN; Chen S.-T.; Wu M.-H.
臺大學術典藏	2020-12-21T01:58:15Z	Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments	Huang T.; Atwal P.S.; Wong L.-J.; PI-CHUAN FAN; Hwu W.-L.; Chien Y.-H.; Luo S.;Alexander Valencia C.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.
臺大學術典藏	2020-12-21T01:58:11Z	De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome	Lee N.-C.; Kwok P.-Y.; Lin C.-L.; Hwu W.-L.; Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN; Tu Y.-F.; Chou Y.-Y.
臺大學術典藏	2020-12-21T01:08:41Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Weng W.-C.; JIA-FENG WU; Chien Y.-H.; Liu H.-M.; Tsai L.-P.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-18T06:22:28Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.; Wu E.-T.; SHUENN-NAN CHIU; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-12-18T06:22:28Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-18T06:22:27Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wang J.-K.; Hwu W.-L.; Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Chen L.-R.;Chen C.-A.;Shuenn-Nan Chiu;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Wu M.-H.
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	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	2020-12-18T02:21:59Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Tsai W.-Y.; Wang P.-J.; WANG-TSO LEE; Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Hwu W.-L.;Chien Y.-H.;Liang J.-S.;Wang-Tso Lee;Wang P.-J.;Tsai W.-Y.
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.

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