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

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Institution	Date	Title	Author
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.

Showing items 511-520 of 770 (77 Page(s) Totally)
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