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Institution	Date	Title	Author
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.

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