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機構 日期 題名 作者
臺大學術典藏 2020-12-16T02:25:45Z Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J.
臺大學術典藏 2020-12-16T02:25:44Z Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:43Z Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:29Z Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:28Z Outcome of early-treated type III Gaucher disease patients Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:26Z Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease Chien Y.-H.;Lee N.-C.;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:25Z Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏 2020-12-16T02:25:24Z Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth Chien Y.-H.; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:20Z Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:20Z Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme Peng S.S.-F.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.

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