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	2020-12-24T06:17:25Z	Congenital intracranial teratoma	YIN-HSIU CHIEN; Tsao P.-N.; Lee W.-T.; Peng S.-F.; Tsou Yau K.-I.
臺大學術典藏	2020-12-24T06:17:25Z	Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one case	YIN-HSIU CHIEN; Lee P.-I.; Huang L.-M.; Lee C.-Y.; Lin D.-T.; Lin K.-H.
臺大學術典藏	2020-12-24T06:17:24Z	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant	YIN-HSIU CHIEN; Chu S.-Y.; Hsu C.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:24Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:23Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:23Z	Cockayne syndrome in a family	YIN-HSIU CHIEN; Chou H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan	Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease	Hwu W.-L.; Lai M.-Y.; YIN-HSIU CHIEN; Hsu C.-C.
臺大學術典藏	2020-12-24T06:17:21Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chiang B.-L.; Chou C.-C.; Hwu W.-L.; Yang Y.-H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:20Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏	2020-12-24T06:17:20Z	Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Chiang S.-C.; Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:20Z	Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.; Chiang S.-C.
臺大學術典藏	2020-12-24T06:17:19Z	Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.	YIN-HSIU CHIEN; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:19Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	YIN-HSIU CHIEN; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:18Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	YIN-HSIU CHIEN; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:18Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	YIN-HSIU CHIEN; Hwu W.L.; Ariga T.
臺大學術典藏	2020-12-24T06:17:17Z	Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case	Hwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN; Chu S.-Y.
臺大學術典藏	2020-12-24T06:17:17Z	A step-wise diagnosis of fragile X syndrome in Taiwan	Hwu W.-L.; YIN-HSIU CHIEN; Liu C.-H.; Tzeng C.-C.; Chiang S.-C.; Huang Y.-T.
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	2020-12-24T06:17:15Z	Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis	Chen C.-A.; YIN-HSIU CHIEN; Hung C.-C.; Chien S.-C.; Lee C.-N.; Su Y.-N.
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	2020-12-24T06:17:13Z	Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case report	YIN-HSIU CHIEN; Liang D.-C.; Wu J.-Y.; Huang L.-H.; Ho T.-Y.; Shyur S.-D.; Ma Y.-C.
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	Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand...	Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN; Ralston E.; Nagaraju K.; Plotz P.H.
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	2020-12-24T06:17:11Z	Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiology	Jou S.-T.; YIN-HSIU CHIEN; Yang Y.-H.; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; Chiang B.-L.
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	Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan	Chang K.-W.; YIN-HSIU CHIEN; Huang J.-L.; Jaing T.-H.; Lee W.-I.; Yang C.-Y.
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	Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug	Chiu S.-N.; YIN-HSIU CHIEN; Wu M.-H.; Wang J.-K.; Chen S.-J.
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	A multi model voting enhancement for newborn screening healthcare information system	Hsieh S.-L.; Cheng P.-H.; Hsieh S.-H.; Chen P.-H.; Weng Y.-C.; YIN-HSIU CHIEN; Wang Z.; Lai F.
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.

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