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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
臺大學術典藏 2020-12-09T01:38:26Z Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wang S.-F.; Chiang S.-C.; Hsu L.-W.
臺大學術典藏 2020-12-09T01:38:26Z Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism Tsai I.-J.; Hwu W.-L.; Huang S.-C.; NI-CHUNG LEE; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏 2020-12-09T01:38:26Z Outcome of early-treated type III Gaucher disease patients NI-CHUNG LEE; 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 2020-12-09T01:38:25Z Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots Chen P.-W.; NI-CHUNG LEE; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:25Z Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector NI-CHUNG LEE; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:25Z Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease Chien Y.-H.;Ni-Chung Lee;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:24Z Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair Lo F.-S.; Wang C.-J.; Wong M.-C.; NI-CHUNG LEE
臺大學術典藏 2020-12-09T01:38:24Z Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth Chien Y.-H.; NI-CHUNG LEE; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:24Z Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening Chien Y.-H.; Goldstein J.L.; Hwu W.-L.; Smith P.B.; NI-CHUNG LEE; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P.
臺大學術典藏 2020-12-09T01:38:24Z Congenital malformations in newborns - A challenge unmet for decades NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.

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