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

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机构	日期	题名	作者
臺大學術典藏	2020-12-09T01:38:45Z	Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility	Ni-Chung Lee;Chen S.-J.;Tang R.-B.;Hwang B.-T.; NI-CHUNG LEE; Chen S.-J.; Tang R.-B.; Hwang B.-T.
臺大學術典藏	2020-12-09T01:38:45Z	Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case Report	Ni-Chung Lee;Hwang B.;Tui C.-M.;Wei C.-F.;Lee P.-C.; NI-CHUNG LEE; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C.
臺大學術典藏	2020-12-09T01:38:45Z	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case	Ni-Chung Lee;Tiu C.-M.;Soong W.-J.;Tsen C.-L.;Hwang B.-T.;Wei C.-F.; NI-CHUNG LEE; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F.
臺大學術典藏	2020-12-09T01:38:44Z	Corneal lesion as the initial manifestation of tyrosinemia type II	Tsai C.-P.;Lin P.-Y.;Ni-Chung Lee;Niu D.-M.;Lee S.-M.;Hsu W.-M.; Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE; Niu D.-M.; Lee S.-M.; Hsu W.-M.
臺大學術典藏	2020-12-09T01:38:44Z	Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency	Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M.
臺大學術典藏	2020-12-09T01:38:44Z	Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.	Ni-Chung Lee;Hwang B.;Chen C.H.;Niu D.M.; NI-CHUNG LEE; Hwang B.; Chen C.H.; Niu D.M.
臺大學術典藏	2020-12-09T01:38:44Z	Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism	Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y.
臺大學術典藏	2020-12-09T01:38:43Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Ni-Chung Lee;Peng S.-F.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Peng S.-F.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:43Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Ni-Chung Lee;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:43Z	α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5]	Ni-Chung Lee;Niu D.-M.;Lin C.-Y.;Hsiao K.-J.;Yang A.-H.;Ng Y.-Y.; NI-CHUNG LEE; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y.
臺大學術典藏	2020-12-09T01:38:42Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	Chien Y.-H.;Ni-Chung Lee;Wu S.-T.;Liou J.-J.;Chen H.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:42Z	Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.	Hwu W.L.;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Ni-Chung Lee; Hwu W.L.; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:42Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.;Ni-Chung Lee;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Hwu W.L.; Chien Y.H.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:41Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:41Z	Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency	Liu K.-M.;Liu T.-T.;Ni-Chung Lee;Cheng L.-Y.;Hsiao K.-J.;Niu D.-M.; Liu K.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M.
臺大學術典藏	2020-12-09T01:38:40Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Fan P.-C.; Lee W.-T.
臺大學術典藏	2020-12-09T01:38:40Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Hwu W.-L.;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Ni-Chung Lee; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.;Chen H.-L.;Ni Y.-H.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:39Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Chien Y.H.; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:39Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	NI-CHUNG LEE; Dimmock D.; Hwu W.-L.; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-09T01:38:39Z	Screening for pompe disease and fabry disease	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:39Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen C.-A.; Chiu S.-N.; Chien Y.-H.; NI-CHUNG LEE; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chen C.-A.;Chiu S.-N.;Chien Y.-H.;Ni-Chung Lee;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.
臺大學術典藏	2020-12-09T01:38:38Z	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome	Chiang P.-W.; NI-CHUNG LEE; Chien N.; Hwu W.-L.; Spector E.; Tsai A.C.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR	Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.

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