臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Institution	Date	Title	Author
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	2020-12-24T06:17:20Z	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	2020-12-24T06:17:14Z	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	2020-12-24T06:16:24Z	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population	Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.
臺大學術典藏	2020-12-18T02:21:59Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	Chien Y.-H.; Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Lu F.-L.;Wang-Tso Lee;Hwu W.-L.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; WANG-TSO LEE; Hwu W.-L.
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	2020-12-16T02:26:30Z	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.

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