臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

About TAIR
	About TAIR

Browse By
	Institution
	Author
	Title
	Date
	Statistics Chart
	Institution Facts
	Trend

News
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

Copyright
	Publisher & Journal Policy
	TAIR Copyright Conference Minutes

Related Links
	機構典藏計畫網站
	ROAR
	OpenDOAR
	SHERPA
	OAIster
	JAIRO
	Ira
	DSPACE
	RWWR
	臺大學術典藏NTU Scholars

"yin hsiu chien"

Return to Browse by Author
Sorting by Title	Sort by Date

Showing items 166-190 of 345 (14 Page(s) Totally)
<< < 2 3 4 5 6 7 8 9 10 11 > >>
View [10|25|50] records per page

Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:16:35Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:34Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
臺大學術典藏	2020-12-24T06:16:34Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H.
臺大學術典藏	2020-12-24T06:16:33Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-24T06:16:32Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Hwu W.-L.; YIN-HSIU CHIEN; Wen M.-S.; Song I.-W.; Chang C.-P.; Wang N.H.-H.; Chiang H.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-24T06:16:32Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Chiu M.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Huang A.-C.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.
臺大學術典藏	2020-12-24T06:16:31Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:31Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-24T06:16:29Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	YIN-HSIU CHIEN; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:28Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.; Lee C.-T.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y.
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	2020-12-24T06:16:28Z	Gestational age, not transient hyperthyrotropinemia impacts brain white matter diffusion tensor imaging in premature infants	Hung P.-L.; Lui C.-C.; Lee C.-C.; YIN-HSIU CHIEN; Chen F.-S.; Chen C.-C.; Yu H.-R.; Chung M.-Y.; Huang L.-T.
臺大學術典藏	2020-12-24T06:16:27Z	Functional independence of Taiwanese children with Prader–Willi syndrome	Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P.
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	2020-12-24T06:16:22Z	Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease	Wu J.-F.; YIN-HSIU CHIEN; Lee C.-S.; Hsu C.-T.; Chin C.-Y.
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.

Showing items 166-190 of 345 (14 Page(s) Totally)
<< < 2 3 4 5 6 7 8 9 10 11 > >>
View [10|25|50] records per page

	English \| 正體中文 \| 简体中文 \| Total items :0
	Visitors : 52832760 Online Users : 653 Project Commissioned by the Ministry of Education Project Executed by National Taiwan University Library