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

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显示项目 491-515 / 770 (共31页)
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机构	日期	题名	作者
臺大學術典藏	2020-09-22T09:06:23Z	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.;Steven Shinn-Forng Peng;Lin K.-H.; Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; STEVEN SHINN-FORNG PENG; Lin K.-H.
臺大學術典藏	2020-09-22T09:06:19Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Hwu W.-L.; Wang T.-R.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Chien Y.-H.;Steven Shinn-Forng Peng;Wang T.-R.;Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:16Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Steven Shinn-Forng Peng;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.
臺大學術典藏	2020-09-22T09:06:16Z	Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children	Liang J.-S.;Lee W.-T.;Hwu W.-L.;Steven Shinn-Forng Peng;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; Lee W.-T.; Hwu W.-L.; STEVEN SHINN-FORNG PENG; Chu L.-W.; Wang P.-J.; Shen Y.-Z.
臺大學術典藏	2020-09-22T09:06:13Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Lee N.-C.;Steven Shinn-Forng Peng;Hwu W.-L.; Chien Y.-H.; Lee N.-C.; STEVEN SHINN-FORNG PENG; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:12Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chen S.J.; Hwu W.L.; STEVEN SHINN-FORNG PENG; Huang A.C.; Tsai L.K.; Lee N.C.; Chien Y.H.; Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Steven Shinn-Forng Peng;Chen S.J.;Hwu W.L.
臺大學術典藏	2020-09-22T09:06:11Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Hwu W.-L.; Tseng S.-C.; Hsu L.-W.; Wu A.S.-H.; Chen L.-C.; Huang A.-C.; Liu T.-T.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-09-22T09:06:10Z	Schizencephaly in LEOPARD Syndrome	STEVEN SHINN-FORNG PENG; Liang J.-S.;Chien Y.-H.;Hwu W.-L.;Yeh S.-J.;Steven Shinn-Forng Peng; Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J.
臺大學術典藏	2020-09-22T09:06:08Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.;Tsai W.-Y.;Steven Shinn-Forng Peng;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; STEVEN SHINN-FORNG PENG; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-09-22T09:06:06Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	STEVEN SHINN-FORNG PENG; Weng W.-C.; Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
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.

显示项目 491-515 / 770 (共31页)
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