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	2020-12-09T01:38:34Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Ni-Chung Lee;Tsai F.-J.;Chao M.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Ni-Chung Lee;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	Rapid progressive course of later-onset Pompe disease in Chinese patients	Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2020-12-09T01:38:33Z	Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum	Tang S.;Wang J.;Ni-Chung Lee;Milone M.;Halberg M.C.;Schmitt E.S.;Craigen W.J.;Zhang W.;Wong L.-J.C.; Tang S.; Wang J.; NI-CHUNG LEE; Milone M.; Halberg M.C.; Schmitt E.S.; Craigen W.J.; Zhang W.; Wong L.-J.C.
臺大學術典藏	2020-12-09T01:38:33Z	Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia	Wei S.-H.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Lee W.-T.; Wei S.-H.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Lee W.-T.
臺大學術典藏	2020-12-09T01:38:33Z	Congenital hypopituitarism due to POU1F1 gene mutation	Ni-Chung Lee;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:32Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:32Z	Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.	Chien Y.H.; NI-CHUNG LEE; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:32Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.;Su Y.-N.;Ni Y.-H.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chang C.-C.;Chen H.-L.;Chang M.-H.; Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:32Z	Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia	Chang K.-C.; Lin P.-H.; Su Y.-N.; Peng S.S.-F.; NI-CHUNG LEE; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.
臺大學術典藏	2020-12-09T01:38:31Z	Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program	Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Hsu L.-W.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:31Z	An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery	NI-CHUNG LEE; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:31Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; NI-CHUNG LEE; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-12-09T01:38:31Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Chien Y.-H.; NI-CHUNG LEE; Huang P.-H.; Lee W.-T.; Thurberg B.L.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:30Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.
臺大學術典藏	2020-12-09T01:38:30Z	Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing	Kim J.C.; NI-CHUNG LEE; Hwu P.W.L.; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.
臺大學術典藏	2020-12-09T01:38:30Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:30Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:29Z	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:29Z	Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests	Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:29Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; NI-CHUNG LEE; Hwu W.-L.; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-09T01:38:29Z	AADC deficiency. Occurring in humans, modeled in rodents.	Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2020-12-09T01:38:28Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:28Z	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	NI-CHUNG LEE; Shieh Y.-D.; Chien Y.-H.; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.

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