| 臺大學術典藏 |
2021-01-05T08:07:22Z |
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.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:07Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chen Y.-T.; Tsai F.-J.; Huang P.-H.; Wu M.-H.; Huang A.-C.; Chen C.-A.; Lee N.-C.; Keutzer J.; Zhang X.K.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:00Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:59Z |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
|
Hwu W.-L.; Scholl T.; Labrousse P.; YIN-HSIU CHIEN; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R. |
| 臺大學術典藏 |
2020-12-24T06:16:57Z |
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
|
YIN-HSIU CHIEN; De Jesus V.R.; Orsini J.J.; Keutzer J.; Dajnoki A.; Fekete G.; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. |
| 臺大學術典藏 |
2020-12-24T06:16:56Z |
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
|
Chiang S.-C.; Zhang X.K.; Olivova P.; YIN-HSIU CHIEN; Lee N.-C.; Keutzer J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:57Z |
Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders
|
Bodamer O.;De Jesus V.;Keutzer J.;Zhang K.;Wuh-Liang Hwu;M?Hl A.; Bodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU; M?hl A. |
| 臺大學術典藏 |
2020-12-16T02:25:56Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:49Z |
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 |
2020-12-16T02:25:46Z |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
|
Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Lee N.-C.;Akmaev V.R.;Scholl T.;Wuh-Liang Hwu; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
|
Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. |
| 臺大學術典藏 |
2020-12-16T02:25:43Z |
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
|
Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Lee N.-C.;Keutzer J.;Wuh-Liang Hwu; Chien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives
|
Reuser A.J.;Verheijen F.W.;Bali D.;Van Diggelen O.P.;Germain D.P.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Olivova P.;Piraud M.;Wuyts B.;Zhang K.;Keutzer J.; Reuser A.J.; Verheijen F.W.; Bali D.; van Diggelen O.P.; Germain D.P.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Olivova P.; Piraud M.; Wuyts B.; Zhang K.; Keutzer J. |
| 臺大學術典藏 |
2020-12-09T01:38:41Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; NI-CHUNG LEE; 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.; Hwu W.-L. |
| 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 |
2020-12-09T01:38:34Z |
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 |
2020-03-05T08:16:42Z |
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.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T08:16:42Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Pei-Hsin Huang;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2018-09-10T06:49:59Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien, YH;Chiang, SC;Zhang, XK;Keutzer, J;Lee, NC;Huang, AC;Chen, CA;Wu, MH;Huang, PH;Tsai, FJ;Chen, YT;Hwu, WL; Chien, Y.-H. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Lee, N.-C. and Huang, A.-C. and Chen, C.-A. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; CHUN-AN CHEN; Chien, YH; Chiang, SC; NI-CHUNG LEE; MEI-HWAN WU; Zhang, XK; YIN-HSIU CHIEN; Keutzer, J; WUH-LIANG HWU; Lee, NC; Huang, AC; PEI-HSIN HUANG; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL |
| 國立臺灣大學 |
2008-07 |
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
|
Chien, YH; Chiang, SC; Zhang, XK; Keutzer, J; Lee, NC; Huang, AC; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL |
| 臺大學術典藏 |
2008 |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Zhang X.K.; Chiang S.-C.; Chien Y.-H.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2008 |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chun-An Chen;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; CHUN-AN CHEN; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
