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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 176-200 of 770  (31 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2020-12-24T06:17:16Z Carbohydrate deficient glycoprotein syndrome type IA Chu K.-L.; YIN-HSIU CHIEN; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:14Z KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 Lin L.-K.; YIN-HSIU CHIEN; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:14Z Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:14Z Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment Peng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M.
臺大學術典藏 2020-12-24T06:17:14Z Plasma chitotriosidase activity and malaria (multiple letters) Musumeci S.; Hwu W.-L.; YIN-HSIU CHIEN; Chen J.-H.
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.

Showing items 176-200 of 770  (31 Page(s) Totally)
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