| 國立成功大學 |
2023 |
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
|
Lee, C.-T.;Tsai, W.-H.;Chang, Chang C.-C.;Chen, P.-C.;Fann, C.S.-J.;Chang, H.-K.;Liu, S.-Y.;Wu, M.-Z.;Chiu, P.-C.;Hsu, W.-M.;Yang, W.-S.;Lai, Lai L.-P.;Tsai, W.-Y.;Yang, S.-B.;Chen, P.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
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Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
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Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
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Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-02-18T06:49:22Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU; Lee N.-C. |
| 臺大學術典藏 |
2021-10-06T08:04:49Z |
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. |
| 臺大學術典藏 |
2021-10-04T05:53:44Z |
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.; PI-CHUAN FAN; 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 |
2021-09-14T01:40:06Z |
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.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; CHI-NIEN CHEN; 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 |
2021-06-09T08:12:22Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.;Wuh-Liang Hwu;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.; Wu E.-T.; WUH-LIANG HWU; 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 |
2021-06-09T08:12:18Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.;Lee C.-L.;Chang C.-Y.;Chiu P.C.;Chien Y.-H.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chao M.-C.;Chang T.-M.;Tsai W.-H.;Wang T.-J.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; 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 |
2021-05-28T04:05:59Z |
Development of a Neuroprotective Erythropoietin Modified with a Novel Carrier for the Blood�VBrain Barrier
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Chiu P.-C.; Liou H.-C.; THAI-YEN LING; Shen L.-J. |
| 臺大學術典藏 |
2021-03-29T06:37:04Z |
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.; 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.; FEI-PEI LAI |
| 臺大學術典藏 |
2021-01-08T07:28:13Z |
Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism
|
Cheng-Ting Lee;Liu S.-Y.;Tung Y.-C.;Chiu P.-C.;Wu M.-Z.;Tsai W.-Y.; CHENG-TING LEE; Liu S.-Y.; Tung Y.-C.; Chiu P.-C.; Wu M.-Z.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T06:17:21Z |
Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism
|
Lee C.-T.; Liu S.-Y.; YI-CHING TUNG; Chiu P.-C.; Wu M.-Z.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-06T06:51:46Z |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
|
Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chun-An Chen;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; CHUN-AN CHEN; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-01-04T07:36:12Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
MEI-HWEI CHANG; Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H. |
| 臺大學術典藏 |
2021-01-04T07:36:05Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG |
| 國立成功大學 |
2021 |
Epigenotype, genotype, and phenotype analysis of taiwanese patients with silver–russell syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.-C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Tsai, M.-C.;Chao, M.-C.;Tsai, L.-P.;Yang, C.-F.;Su, P.-H.;Pan, Y.-W.;Lee, C.-H.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 國立成功大學 |
2021 |
Quantitative dna methylation analysis and epigenotype‐phenotype correlations in taiwanese patients with beckwith‐wiedemann syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Yang, C.-F.;Tsai, M.-C.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 臺大學術典藏 |
2020-12-28T08:14:40Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chang M.-H.; Chiu P.-C.; Huang Y.-T.; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Chen H.-W.; Chen H.-L.; YEN-HSUAN NI; Chen H.-W.;Chen H.-L.;Yen-Hsuan Ni;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H. |
| 臺大學術典藏 |
2020-12-24T06:17:12Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
Kobayashi K.; YIN-HSIU CHIEN; Lee N.-C.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:07Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H. |
| 臺大學術典藏 |
2020-12-24T06:16:58Z |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
|
Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:43Z |
Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
|
Chen Y.-C.; YIN-HSIU CHIEN; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; Lee N.-C. |
