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機構	日期	題名	作者
臺大學術典藏	2020-12-24T06:16:28Z	Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan	Li M.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:26Z	Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)	Aksglaede L.; K?lker S.; Chabrol B.; Walter J.H.; Zeman J.; Sykut-Cegielska J.; Schiff M.; Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; Hwu W.-L.; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium
臺大學術典藏	2020-12-24T06:16:26Z	SHOX deficiency in short Taiwanese children: A single-center experience	Tsai W.-Y.; YIN-HSIU CHIEN; Lee C.-T.; Liu S.-Y.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:26Z	Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?	YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Fang J.-Y.
臺大學術典藏	2020-12-24T06:16:25Z	Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease	Chiang S.-C.; Chen P.-W.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:24Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Lee N.-C.; Liou H.-H.; Hwu W.-L.; Muramatsu S.-I.; Tsai L.-K.; YIN-HSIU CHIEN; Ho S.-Y.
臺大學術典藏	2020-12-24T06:16:24Z	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population	Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:24Z	Congenital generalized lipodystrophy in Taiwan	Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:23Z	Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments	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.; YIN-HSIU CHIEN; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏	2020-12-24T06:16:21Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Hwu W.-L.; Tseng W.-Y.I.; Peng S.-F.; Hsu Y.-C.; Tseng C.-H.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:20Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	YIN-HSIU CHIEN; Chen N.-Q.; Tsai W.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:20Z	High incidence of co-existing GLA variants and stroke susceptibility	YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:20Z	A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:19Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F.
臺大學術典藏	2020-12-24T06:16:18Z	Clinical features of Pompe disease with motor neuronopathy	Tsai L.-K.; Hwu W.-L.; Lee N.-C.; Huang P.-H.; YIN-HSIU CHIEN
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.

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