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机构 日期 题名 作者
臺大學術典藏 2020-12-16T02:26:18Z Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease Hsu C.-C.;Chien Y.-H.;Lai M.-Y.;Wuh-Liang Hwu; Hsu C.-C.; Chien Y.-H.; Lai M.-Y.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:18Z Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study Chu S.-Y.;Tsai W.-Y.;Chen L.-H.;Wei M.-L.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:18Z DiGeorge sequence with hypogammaglobulinemia: A case report Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Wuh-Liang Hwu;Kuo P.-L.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Chiang B.-L.
臺大學術典藏 2020-12-16T02:26:17Z Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chou C.-C.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chou C.-C.; Chiang B.-L.
臺大學術典藏 2020-12-16T02:26:17Z Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease Yang C.-C.;Lai L.-W.;Whitehair O.;Wuh-Liang Hwu;Chiang S.-C.;Lien Y.-H.H.; Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU; Chiang S.-C.; Lien Y.-H.H.
臺大學術典藏 2020-12-16T02:26:17Z Neonatal screening and monitoring system in Taiwan. Wuh-Liang Hwu;Huang A.C.;Chen J.S.;Hsiao K.J.;Tsai W.Y.; WUH-LIANG HWU; Huang A.C.; Chen J.S.; Hsiao K.J.; Tsai W.Y.
臺大學術典藏 2020-12-16T02:26:17Z Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations Kobayashi K.;Lu Y.B.;Li M.X.;Nishi I.;Hsiao K.-J.;Choeh K.;Yang Y.;Wuh-Liang Hwu;Reichardt J.K.V.;Palmieri F.;Okano Y.;Saheki T.; Kobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T.
臺大學術典藏 2020-12-16T02:26:17Z Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan WUH-LIANG HWU; Chien Y.-H.; Chu S.-Y.;Chiang S.-C.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Chiang S.-C.
臺大學術典藏 2020-12-16T02:26:16Z Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing Wuh-Liang Hwu;Chien Y.-H.;Liang J.-S.;Lee W.-T.;Wang P.-J.;Tsai W.-Y.; WUH-LIANG HWU; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏 2020-12-16T02:26:16Z Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both? Wuh-Liang Hwu;Yu C.-L.; WUH-LIANG HWU; Yu C.-L.

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