臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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显示项目 501-525 / 770 (共31页)
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机构	日期	题名	作者
臺大學術典藏	2020-09-22T09:06:05Z	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee N.-C.; Hwu W.-L.; Huang A.-C.; Chang L.-M.; Cheng P.-W.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Lee C.-S.
臺大學術典藏	2020-09-22T09:06:05Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; STEVEN SHINN-FORNG PENG; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2020-09-22T09:06:04Z	Outcome of early-treated type III Gaucher disease patients	Tsai F.-J.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:04Z	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; STEVEN SHINN-FORNG PENG; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-09-22T09:06:02Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	STEVEN SHINN-FORNG PENG; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-09-22T09:06:01Z	Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs	Hsu R.-H.;Hwu W.-L.;Chen M.;Chung I.-F.;Steven Shinn-Forng Peng;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-09-22T09:06:00Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Hwu W.-L.
臺大學術典藏	2020-09-22T08:51:57Z	Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease	Peng S.S.-F.; Li Y.-W.; Hwu W.-L.
臺大學術典藏	2020-09-22T08:51:56Z	Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation	Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H.
臺大學術典藏	2020-09-22T08:51:55Z	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.; Kuo M.-F.
臺大學術典藏	2020-09-22T08:51:54Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Chien Y.-H.; Peng S.-F.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2020-09-22T08:51:52Z	Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children	Wang P.-J.; Shen Y.-Z.; Chu L.-W.; Peng S.S.-F.; Hwu W.-L.; Lee W.-T.; Liang J.-S.
臺大學術典藏	2020-09-22T08:51:50Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2020-09-22T08:51:50Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.; Lee N.-C.; Peng S.-F.; Hwu W.-L.
臺大學術典藏	2020-09-22T08:51:48Z	Schizencephaly in LEOPARD Syndrome	Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J.; Peng S.-F.
臺大學術典藏	2020-09-22T08:51:47Z	Congenital hypopituitarism due to POU1F1 gene mutation	Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; Peng S.-F.; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2020-09-22T08:51:45Z	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Hwu W.-L.; Lee N.-C.; Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.
臺大學術典藏	2020-09-22T08:51:45Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2020-09-22T08:51:44Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.
臺大學術典藏	2020-09-22T08:51:43Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	Peng S.S.-F.; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-09-22T08:51:42Z	Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs	Chen C.-Y.; Peng S.S.-F.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Cheng W.-C.; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-09-22T08:51:41Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; Hwu W.-L.
臺大學術典藏	2020-08-21T08:51:22Z	MRI in a case of adult-onset citrullinemia	Chen Y.-F.;Huang Y.-C.;Hon-Man Liu;Hwu W.-L.; Chen Y.-F.; Huang Y.-C.; HON-MAN LIU; Hwu W.-L.
臺大學術典藏	2020-08-21T08:51:16Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	HON-MAN LIU; Hwu W.-L.; Chien Y.-H.; Tseng W.-Y.I.; Peng S.S.-F.; Peng S.S.-F.;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Hon-Man Liu
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

显示项目 501-525 / 770 (共31页)
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