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机构 日期 题名 作者
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 161-170 / 770 (共77页)
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