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機構 日期 題名 作者
臺大學術典藏 2020-12-28T07:56:38Z Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia Hwu W.-L.; Chen Y.-S.; JYH-MING JIMMY JUANG; Shun C.-T.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏 2020-12-24T06:16:37Z Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth Tsai F.-J.; Chen C.-A.; Lee N.-C.; YIN-HSIU CHIEN; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:34Z Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
臺大學術典藏 2020-12-24T06:16:31Z Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏 2020-12-24T06:16:20Z Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia YIN-HSIU CHIEN; Chen N.-Q.; Tsai W.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:19Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F.
臺大學術典藏 2020-12-24T06:16:15Z Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:13Z Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.
臺大學術典藏 2020-12-24T02:03:45Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Tsao P.-N.; HUNG-CHIEH CHOU; Chen T.-F.; Chen N.-Q.; Hsu C.; Chien Y.-H.; Hwu W.-L.; Wu E.-T.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Hung-Chieh Chou;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏 2020-12-21T08:19:26Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;I-Jung Tsai;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.

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