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機構 日期 題名 作者
臺大學術典藏 2020-12-09T01:38:33Z Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏 2020-12-09T01:38:33Z Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia Wei S.-H.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Lee W.-T.; Wei S.-H.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Lee W.-T.
臺大學術典藏 2020-12-09T01:38:33Z Congenital hypopituitarism due to POU1F1 gene mutation Ni-Chung Lee;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:32Z Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; NI-CHUNG LEE
臺大學術典藏 2020-12-09T01:38:32Z Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. Chien Y.H.; NI-CHUNG LEE; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏 2020-12-09T01:38:32Z Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system Chen S.-T.;Su Y.-N.;Ni Y.-H.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chang C.-C.;Chen H.-L.;Chang M.-H.; Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏 2020-12-09T01:38:31Z Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Hsu L.-W.; Chien Y.-H.
臺大學術典藏 2020-12-09T01:38:31Z An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery NI-CHUNG LEE; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:31Z Gene therapy for aromatic L-amino acid decarboxylase deficiency Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; NI-CHUNG LEE; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏 2020-12-09T01:38:31Z Early pathologic changes and responses to treatment in patients with later-onset Pompe disease Chien Y.-H.; NI-CHUNG LEE; Huang P.-H.; Lee W.-T.; Thurberg B.L.; Hwu W.-L.

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