| 臺大學術典藏 |
2020 |
Development of newborn screening for pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Lin C.-Y.; Chang F.-M.; Hsu Y.-K.; WEN-CHIN WENG; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lee W.-T. |
| 國立成功大學 |
2020 |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
Chien, Y.-H.;Tsai, W.-H.;Chang, Chang C.-L.;Chiu, P.-C.;Chou, Y.-Y.;Tsai, F.-J.;Wong, S.-L.;Lee, N.-C.;Hwu, W.-L. |
| 國立成功大學 |
2020 |
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome
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Kao, H.-J.;Chiang, H.-L.;Chen, H.-H.;Fan, P.-C.;Tu, Y.-F.;Chou, Y.-Y.;Hwu, W.-L.;Lin, C.-L.;Kwok, P.-Y.;Lee, N.-C. |
| 臺大學術典藏 |
2019-12-05T06:27:01Z |
Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome
|
Chan P.-C.;Hsien-Ching Chiu;Hwu W.-L.; Chan P.-C.; HSIEN-CHING CHIU; Hwu W.-L. |
| 臺大學術典藏 |
2019-11-29T03:04:27Z |
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]
|
Wu C.-H.;Hwu W.-L.;Wang J.-K.;Young C.;Peng S.S.-F.;Meng-Fai Kuo; Wu C.-H.; Hwu W.-L.; Wang J.-K.; Young C.; Peng S.S.-F.; MENG-FAI KUO |
| 臺大學術典藏 |
2019-11-27T06:54:13Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.;Shun C.-T.;Yih-Sharng Chen;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; Shun C.-T.; YIH-SHARNG CHEN; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN; Lee N.-C.; Chen S.-J.; Chen S.-J.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin |
| 臺大學術典藏 |
2019 |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
En-Ting Wu;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;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.; EN-TING WU; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; 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. |
| 臺大學術典藏 |
2019 |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
|
Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD |
