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	2020-12-24T06:17:10Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	Wang C.-C.; Chen Y.-W.; Wu E.-T.; YIN-HSIU CHIEN; Hwu W.-L.; Ko W.-J.; Huang S.-C.
臺大學術典藏	2020-12-24T06:17:09Z	A promoter sequence variant of ZNF750 is linked with familial psoriasis	Chen Y.-T.; Fann C.S.J.; Liao F.; Tsai P.-J.; Chen H.-C.; Hung C.-F.; YIN-HSIU CHIEN; Chung W.-H.; Yang L.-C.; Hwu W.-L.; Yang C.-F.
臺大學術典藏	2020-12-24T06:17:09Z	A review of treatment of pompe disease in infants	Hwu W.-L.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:09Z	The genetics of atopic dermatitis	YIN-HSIU CHIEN; Hwu W.-L.; Chiang B.-L.
臺大學術典藏	2020-12-24T06:17:09Z	The design and implementation of a next generation information system for newborn screening	Tu C.-M.; Tang M.-Y.; Chang H.-Y.; Hwu W.-L.; YIN-HSIU CHIEN; Lai F.
臺大學術典藏	2020-12-24T06:17:08Z	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence	Ralston E.; Swaim B.; Czapiga M.; Hwu W.-L.; YIN-HSIU CHIEN; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.
臺大學術典藏	2020-12-24T06:17:08Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:07Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chen Y.-T.; Tsai F.-J.; Huang P.-H.; Wu M.-H.; Huang A.-C.; Chen C.-A.; Lee N.-C.; Keutzer J.; Zhang X.K.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:07Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-24T06:17:06Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.; Hwu W.-L.; YIN-HSIU CHIEN; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-24T06:17:06Z	Screening for pompe disease and fabry disease	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:05Z	Web Services based newborn screening system with Support Vector Machines	YIN-HSIU CHIEN; Weng Y.-C.; Hsieh S.-L.; Hsieh S.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:05Z	Myopathy in Gaucher disease	Tsai L.-K.; YIN-HSIU CHIEN; Yang C.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:04Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wu M.-H.; Wang J.-K.; Lin M.-T.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; Chiu S.-N.; Chen C.-A.; Chen L.-R.
臺大學術典藏	2020-12-24T06:17:04Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	YIN-HSIU CHIEN; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C.
臺大學術典藏	2020-12-24T06:17:03Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	Hwu W.-L.; Lee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN; Tsai W.-Y.
臺大學術典藏	2020-12-24T06:17:03Z	Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.	YIN-HSIU CHIEN; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:02Z	Schizencephaly in LEOPARD Syndrome	Peng S.-F.; Yeh S.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.
臺大學術典藏	2020-12-24T06:17:02Z	Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies	YIN-HSIU CHIEN; Finn C.T.; Jakobs C.; Allen R.H.; Wang J.; Stabler S.P.; Jano??kov? B.; Venezia S.; Collard R.; Ko?ich V.; Ha?ek J.; Kraus J.P.; Hwu W.-L.; Hegele R.A.; Mudd S.H.
臺大學術典藏	2020-12-24T06:17:02Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:01Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; YIN-HSIU CHIEN; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:00Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-24T06:17:00Z	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan	Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏	2020-12-24T06:17:00Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:59Z	Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program	Hwu W.-L.; Scholl T.; Labrousse P.; YIN-HSIU CHIEN; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.

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