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機構 日期 題名 作者
臺大學術典藏 2020-12-16T02:25:56Z Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J.
臺大學術典藏 2020-12-16T02:25:51Z Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏 2020-12-16T02:25:49Z Pompe disease in infants: Improving the prognosis by newborn screening and early treatment Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:48Z Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan 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.; 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 2020-12-16T02:25:46Z FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU
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.
臺大學術典藏 2020-12-16T02:25:20Z Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:19Z 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏 2020-12-16T02:25:19Z Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:18Z Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease Chiang H.-L.;Wang N.H.-H.;Song I.-W.;Chang C.-P.;Wen M.-S.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chen Y.-T.;Wu J.-Y.; Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏 2020-12-16T02:25:17Z Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏 2020-12-16T02:25:14Z Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS) Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:12Z Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:10Z Functional independence of Taiwanese patients with mucopolysaccharidoses Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:09Z Congenital generalized lipodystrophy in Taiwan Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:06Z Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.

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