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机构 日期 题名 作者
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.

显示项目 146-170 / 770 (共31页)
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