| 臺大學術典藏 |
2020-12-16T02:26:20Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
Chien Y.-H.;Chiang S.-C.;Huang A.;Lin J.-M.;Chiu Y.-N.;Chou S.-P.;Chu S.-Y.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:18Z |
Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study
|
Chu S.-Y.;Tsai W.-Y.;Chen L.-H.;Wei M.-L.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:18Z |
DiGeorge sequence with hypogammaglobulinemia: A case report
|
Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Wuh-Liang Hwu;Kuo P.-L.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2020-12-16T02:26:17Z |
Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan
|
WUH-LIANG HWU; Chien Y.-H.; Chu S.-Y.;Chiang S.-C.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Chiang S.-C. |
| 臺大學術典藏 |
2020-12-16T02:26:16Z |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Lee P.-H.;Wuh-Liang Hwu; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:15Z |
Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case
|
Wang I.-J.;Chu S.-Y.;Wang C.-Y.;Wang P.-J.;Wuh-Liang Hwu; Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:12Z |
Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case
|
Wuh-Liang Hwu;Kuo P.-L.;Hung Y.-T.;Chien Y.-H.;Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Hung Y.-T.; Chien Y.-H.; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-16T02:26:11Z |
Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review
|
Chu S.-Y.;Tsai W.-Y.;Chien Y.-H.;Fang J.-S.;Ku C.-W.;Chang P.-Y.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chien Y.-H.; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:08Z |
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
|
Tzeng C.-C.;Tsai L.-P.;Wuh-Liang Hwu;Lin S.-J.;Chao M.-C.;Jong Y.-J.;Chu S.-Y.;Chao W.-C.;Lu C.-L.; Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:32Z |
Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?
|
Tsai T.-Y.;Weng C.-Y.;Lin H.-M.;Lai P.-C.;Chou S.-P.;Wuh-Liang Hwu;Chu S.-Y.; Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Congenital generalized lipodystrophy in Taiwan
|
Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:01Z |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:00Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
Chien Y.-H.;Lee N.-C.;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:24:59Z |
Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant
|
Chu S.-Y.;Chien C.-C.;Wuh-Liang Hwu;Wang P.-J.;Chien Y.-H.; Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU; Wang P.-J.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:23Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
|
Hsiue H.-C.; NI-CHUNG LEE; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:21Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-09T01:38:13Z |
Congenital generalized lipodystrophy in Taiwan
|
Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
Chien Y.-H.;Ni-Chung Lee;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K. |
| 臺大學術典藏 |
2020-12-08T03:29:01Z |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Frank Leigh Lu;Chen H.-L.;Ho M.-J.;Lee P.-H.;Hwu W.-L.; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; FRANK LEIGH LU; Chen H.-L.; Ho M.-J.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-11-19T03:42:58Z |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hwu W.-L.; PO-HUANG LEE; Ho M.-J.; Chen H.-L.; Lu F.L.; Chu S.-Y.; Chien Y.-H.; Hsui J.-Y.; Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Po-Huang Lee;Hwu W.-L. |
| 臺大學術典藏 |
2020-07-20T05:28:05Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
|
Chu S.-Y.; Lin S.-J.; Chen C.-H.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE; Hsiue H.-C.;Lee N.-C.;Tsai H.-B.;Yang C.-C.;Wu C.-S.;Lee W.-T.;Weng W.-C.;Fan P.-C.;Chien Y.-H.;Hwu W.-L.;Hung K.-L.;Huang C.-C.;Chen C.-H.;Lin S.-J.;Chu S.-Y.;Wang T.-J.;Lu C.-J.;Pei-Lin Lee |
| 臺大學術典藏 |
2020-06-27T06:40:11Z |
DiGeorge sequence with hypogammaglobulinemia: A case report
|
Kuo P.-L.; BOR-LUEN CHIANG; Hwu W.-L.; Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Hwu W.-L.;Kuo P.-L.;Bor-Luen Chiang; Chien Y.-H.; Yang Y.-H.; Chu S.-Y. |
| 臺大學術典藏 |
2020-04-21T03:52:42Z |
Searching for stable Na-ordered phases in single-crystal samples of γ- Nax CoO2
|
Shu, G. J.; Prodi, A.; Chu, S. Y.; Lee, Y. S.; Sheu, H. S.; Chou, F. C. |
