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	2021-01-04T07:38:43Z	Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia	Chiang S.-C.;Lee Y.-M.;Mei-Hwei Chang;Wang T.-R.;Ko T.-M.;Hwu W.-L.; Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG; Wang T.-R.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2021-01-04T07:38:43Z	Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations	Hwu W.-L.;Chiang S.-C.;Huang S.-F.;Mei-Hwei Chang;Wen W.-H.;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG; Wen W.-H.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:42Z	Carnitine transport defect presenting with hyperammonemia: Report of one case	Hwu W.-L.;Chiang S.-C.;Mei-Hwei Chang;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; MEI-HWEI CHANG; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:41Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.;Huang S.-F.;Hwu W.-L.;Hou J.-W.;Ni Y.-H.;Mei-Hwei Chang; Chang P.-F.; Huang S.-F.; Hwu W.-L.; Hou J.-W.; Ni Y.-H.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:38:41Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Ni Y.-H.; Yang T.-Y.; Chen H.-L.; Yang T.-Y.;Chen H.-L.;Ni Y.-H.;Hwu W.-L.;Mei-Hwei Chang; Hwu W.-L.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:16Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	Huang H.-P.;Chien Y.-H.;Huang L.-M.;Ni Y.-H.;Mei-Hwei Chang;Ho M.-C.;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; MEI-HWEI CHANG; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2021-01-04T07:36:13Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Yeh J.-N.; Jeng Y.-M.; Chen H.-L.; Ni Y.-H.; Hwu W.-L.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:12Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	MEI-HWEI CHANG; Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.
臺大學術典藏	2021-01-04T07:36:05Z	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.; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG
臺大學術典藏	2021-01-04T07:36:04Z	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Chen H.-L.; Wang R.; Chen H.-L.; Hwu W.-L.; Jeng Y.-M.; MEI-HWEI CHANG; Ling V.
臺大學術典藏	2021-01-04T07:36:01Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; MEI-HWEI CHANG; Hwu W.-L.
臺大學術典藏	2021-01-04T07:33:46Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; MEI-HWEI CHANG
臺大學術典藏	2020-12-28T08:15:08Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Yang T.-Y.;Chen H.-L.;Yen-Hsuan Ni;Hwu W.-L.;Chang M.-H.; Yang T.-Y.; Chen H.-L.; YEN-HSUAN NI; Hwu W.-L.; Chang M.-H.
臺大學術典藏	2020-12-28T08:15:08Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.; Chang P.-F.;Huang S.-F.;Hwu W.-L.;Hou J.-W.;Yen-Hsuan Ni;Chang M.-H.; Huang S.-F.; Hwu W.-L.; Hou J.-W.; YEN-HSUAN NI; Chang M.-H.
臺大學術典藏	2020-12-28T08:14:48Z	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism	Huang H.-P.;Chien Y.-H.;Huang L.-M.;Yen-Hsuan Ni;Chang M.-H.;Ho M.-C.;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; YEN-HSUAN NI; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-12-28T08:14:46Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	YEN-HSUAN NI; Hwu W.-L.; Chang M.-H.; Yeh J.-N.;Jeng Y.-M.;Chen H.-L.;Yen-Hsuan Ni;Hwu W.-L.;Chang M.-H.; Yeh J.-N.; Jeng Y.-M.; Chen H.-L.
臺大學術典藏	2020-12-28T08:14:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chang M.-H.; Chiu P.-C.; Huang Y.-T.; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Chen H.-W.; Chen H.-L.; YEN-HSUAN NI; Chen H.-W.;Chen H.-L.;Yen-Hsuan Ni;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.
臺大學術典藏	2020-12-28T08:14:36Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Hwu W.L.; Chen P.W.; Ho M.C.; Lee N.C.; Chien Y.H.; YEN-HSUAN NI; Lee P.H.
臺大學術典藏	2020-12-28T07:56:38Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Hwu W.-L.; Chen Y.-S.; JYH-MING JIMMY JUANG; Shun C.-T.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-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	2020-12-24T06:17:14Z	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.

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