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Showing items 181-205 of 770 (31 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:17:13Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	Huang H.-P.; YIN-HSIU CHIEN; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:12Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Kobayashi K.; YIN-HSIU CHIEN; Lee N.-C.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:12Z	Tandem mass neonatal screening in Taiwan - Report from one center	Huang H.-P.; Chu K.-L.; YIN-HSIU CHIEN; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:11Z	Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease	Wraith J.E.; Chen Y.T.; Worden M.A.; Davison M.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; Hwu W.L.; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.
臺大學術典藏	2020-12-24T06:17:10Z	Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.	Lee N.C.; Lin C.Y.; Law L.K.; Tang N.L.; YIN-HSIU CHIEN; Hwu W.L.
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

Showing items 181-205 of 770 (31 Page(s) Totally)
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