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	2020-12-24T06:16:18Z	Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese	Fung J.L.-F.; Yeung K.-S.; Mak C.C.-Y.; Smeitink J.; Rodenburg R.J.T.; Chong S.-C.; Tsoi C.; Chan V.C.-M.; Kuo P.-L.; Hwu W.-L.; YIN-HSIU CHIEN; Quinzii C.M.; Lin S.-P.; Chou Y.-Y.; Kwong A.K.-Y.; Willis B.; Tse D.M.L.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.
臺大學術典藏	2020-12-24T06:16:17Z	Diversity in heritable disorders of connective tissue at a single center	Hsu R.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:17Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee P.-L.; Hwu W.-L.; Chen C.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:16Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2020-12-24T06:16:16Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Tan L.T.H.-C.; Lee C.-L.; Lin H.-Y.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; Chuang C.-K.; Wu M.-H.; Wang J.-K.; 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	2020-12-24T06:16:15Z	Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant	YIN-HSIU CHIEN; Wang P.-J.; Chien C.-C.; Hwu W.-L.; Chu S.-Y.
臺大學術典藏	2020-12-24T06:16:15Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	YIN-HSIU CHIEN; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:15Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	YIN-HSIU CHIEN; Yang F.-J.; Weng H.-L.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Lee N.-C.; Lai F.; Lin I.-L.; Kuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Hung M.-Z.
臺大學術典藏	2020-12-24T06:16:14Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Lin C.-H.; Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chen S.-J.; Lee B.-C.
臺大學術典藏	2020-12-24T06:16:13Z	Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-24T06:16:13Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:12Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Chen P.-R.; Hwu W.-L.; Yang F.-J.; Weng H.-L.
臺大學術典藏	2020-12-24T03:22:48Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	Huang S.-C.; Ko W.-J.; Wang C.-C.;Chen Y.-W.;En-Ting Wu;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Huang S.-C.; Wang C.-C.; Chen Y.-W.; EN-TING WU; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T03:22:46Z	Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort	Wu M.-H.; Wang J.-K.; Wang C.-C.;Hwu W.-L.;En-Ting Wu;Lu F.;Wang J.-K.;Wu M.-H.; Wang C.-C.; Hwu W.-L.; EN-TING WU; Lu F.
臺大學術典藏	2020-12-24T03:22:42Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.; EN-TING WU; Chiu S.; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-12-24T03:22:35Z	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.; EN-TING WU; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T03:22:32Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.;Hwu W.-L.;Huang S.-C.;Lee N.-C.;En-Ting Wu;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; Huang S.-C.; Lee N.-C.; EN-TING WU; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-24T02:04:13Z	Cockayne syndrome in a family	Chien Y.-H.;Hung-Chieh Chou;Hwu W.-L.; Chien Y.-H.; HUNG-CHIEH CHOU; Hwu W.-L.
臺大學術典藏	2020-12-24T02:04:09Z	Trisomy 18 in monozygotic twins with discordant phenotypes	Lee J.-T.;Hung-Chieh Chou;Tsao P.-N.;Hsieh W.-S.;Hwu W.-L.; Lee J.-T.; HUNG-CHIEH CHOU; Tsao P.-N.; Hsieh W.-S.; Hwu W.-L.
臺大學術典藏	2020-12-24T02:03:54Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; HUNG-CHIEH CHOU; Chen C.-Y.; Hsieh W.-S.
臺大學術典藏	2020-12-24T02:03:45Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Tsao P.-N.; HUNG-CHIEH CHOU; Chen T.-F.; Chen N.-Q.; Hsu C.; Chien Y.-H.; Hwu W.-L.; Wu E.-T.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Hung-Chieh Chou;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2020-12-22T03:29:49Z	Trisomy 18 in monozygotic twins with discordant phenotypes	Lee J.-T.;Chou H.-C.;Po-Nien Tsao;Hsieh W.-S.;Hwu W.-L.; Lee J.-T.; Chou H.-C.; PO-NIEN TSAO; Hsieh W.-S.; Hwu W.-L.
臺大學術典藏	2020-12-22T03:29:29Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; PO-NIEN TSAO; Chen Y.-T.
臺大學術典藏	2020-12-21T08:19:31Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Hwu W.-L.; I-JUNG TSAI; Lee W.-T.; Wu E.-T.; Huang P.-H.; Peng S.-F.; Weng W.-C.; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee N.-C.
臺大學術典藏	2020-12-21T08:19:26Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;I-Jung Tsai;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2020-12-21T02:55:19Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Lee N.-C.; Hsieh W.-S.; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; MING-TAI LIN; Tsao L.-Y.
臺大學術典藏	2020-12-21T02:55:18Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wu M.-H.; Wang J.-K.; Hwu W.-L.; MING-TAI LIN; Lee N.-C.; Chien Y.-H.; Chiu S.-N.; Chen C.-A.; Chen L.-R.
臺大學術典藏	2020-12-21T02:55:15Z	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.;Lu C.-W.;Ming-Tai Lin;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.; Lu C.-W.; MING-TAI LIN; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
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.

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