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机构 日期 题名 作者
臺大學術典藏 2020-12-09T01:38:35Z Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Ni-Chung Lee;Akmaev V.R.;Scholl T.;Hwu W.-L.; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE; Akmaev V.R.; Scholl T.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:35Z FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome Lin W.-D.;Chou I.-C.;Ni-Chung Lee;Wang C.-H.;Hwu W.-L.;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; NI-CHUNG LEE; Wang C.-H.; Hwu W.-L.; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.
臺大學術典藏 2020-12-09T01:38:35Z Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening NI-CHUNG LEE; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.; Ni-Chung Lee;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:34Z Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening Chien Y.-H.;Ni-Chung Lee;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:34Z Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE; Keutzer J.; Hwu W.-L.; Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Ni-Chung Lee;Keutzer J.;Hwu W.-L.; Chien Y.-H.; Olivova P.
臺大學術典藏 2020-12-09T01:38:34Z Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease Chien Y.-H.;Ni-Chung Lee;Tsai F.-J.;Chao M.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:34Z Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints Ni-Chung Lee;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:33Z Rapid progressive course of later-onset Pompe disease in Chinese patients Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.
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 Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum Tang S.;Wang J.;Ni-Chung Lee;Milone M.;Halberg M.C.;Schmitt E.S.;Craigen W.J.;Zhang W.;Wong L.-J.C.; Tang S.; Wang J.; NI-CHUNG LEE; Milone M.; Halberg M.C.; Schmitt E.S.; Craigen W.J.; Zhang W.; Wong L.-J.C.

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