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

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机构	日期	题名	作者
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.

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