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	2021-01-04T07:41:14Z	Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case	Hsu H.C.; Wang T.R.; Hsu Y.H.; MEI-HWEI CHANG; Tseng C.L.;Tsai S.L.;Lin K.H.;Mei-Hwei Chang;Wang T.R.;Hsu Y.H.;Hsu H.C.; Tseng C.L.; Tsai S.L.; Lin K.H.
臺大學術典藏	2021-01-04T07:38:59Z	Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096))	MEI-HWEI CHANG; Chang S.-M.; Wang T.-R.; Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.
臺大學術典藏	2021-01-04T07:38:56Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia	Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:56Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la	Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2021-01-04T07:38:55Z	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Tsai S.Y.;Jeng Y.M.;Hwu W.L.;Ni Y.H.;Mei-Hwei Chang;Wang T.R.; Tsai S.Y.; Jeng Y.M.; Hwu W.L.; Ni Y.H.; MEI-HWEI CHANG; Wang T.R.
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	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	2020-12-24T06:17:14Z	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	2020-12-16T02:26:33Z	Crisis in Gaucher disease simulating osteomyelitis: report of one case.	Lai Y.C.;Wuh-Liang Hwu;Wang T.R.;Hsieh K.H.;Lee C.Y.;Li Y.W.; Lai Y.C.; WUH-LIANG HWU; Wang T.R.; Hsieh K.H.; Lee C.Y.; Li Y.W.
臺大學術典藏	2020-12-16T02:26:33Z	Alkaptonuria in a Chinese baby	Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:32Z	Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.	Wuh-Liang Hwu;Wang T.R.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.	Wuh-Liang Hwu;Tsai W.Y.;Lee J.S.;Wang P.J.;Wang T.R.; WUH-LIANG HWU; Tsai W.Y.; Lee J.S.; Wang P.J.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	A clinical observation of achondroplasia.	Wuh-Liang Hwu;Wang T.R.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	Niemann-Pick disease type B with ocular involvement: report of a case.	Tsai F.J.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.; Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	Measurement of urinary orotic acid by gas chromatography-mass spectrometry.	WUH-LIANG HWU; Chou S.P.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.	WUH-LIANG HWU; Chen R.L.; Lin K.H.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	Y-specific polymerase chain reaction for the interpretation of a chromosome marker.	Wang T.R.;Wuh-Liang Hwu;Hou J.W.;Tsai H.M.;Liu C.H.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Tsai H.M.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:31Z	Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.	Hou J.W.; WUH-LIANG HWU; Tsai W.Y.; Lee J.S.; Wang T.R.; Lue H.C.
臺大學術典藏	2020-12-16T02:26:30Z	In Vitro DNA Methylation Inhibits FMR-1 Promoter	WUH-LIANG HWU; Lee Y.M.; Lee S.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:30Z	Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis.	Wang T.R.;Wuh-Liang Hwu;Hou J.W.;Chou S.P.;Liu C.H.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Chou S.P.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:29Z	Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096))	Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chang S.-M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:29Z	Molecular diagnosis of Gaucher disease type II.	Tsai F.J.;Chen H.W.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Liu S.C.; Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Liu S.C.

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