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Showing items 96-145 of 226 (5 Page(s) Totally)
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Institution	Date	Title	Author
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.
臺大學術典藏	2020-12-09T01:38:28Z	Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy	Lee I.-C.; NI-CHUNG LEE; Lu J.-J.; Su P.-H.
臺大學術典藏	2020-12-09T01:38:28Z	Serial cytokine expressions in infants with incontinentia pigmenti	Liao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE; Lee W.-I.
臺大學術典藏	2020-12-09T01:38:27Z	Pompe disease: Early diagnosis and early treatment make a difference	Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:27Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Chien Y.-H.; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:27Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; NI-CHUNG LEE; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.
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.
臺大學術典藏	2020-12-09T01:38:23Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:23Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	NI-CHUNG LEE; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:23Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Hsiue H.-C.; NI-CHUNG LEE; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.
臺大學術典藏	2020-12-09T01:38:22Z	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.; NI-CHUNG LEE; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:22Z	Integrated care for Down syndrome	NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:22Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; NI-CHUNG LEE; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; Hwu W.-L.; Lin D.-T.
臺大學術典藏	2020-12-09T01:38:22Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Liu T.-T.; Fan Y.-L.; Niu D.-M.; Chien Y.-H.; Chou Y.-Y.; NI-CHUNG LEE; Hsiao K.-J.; Chiu Y.-H.; Liu Y.-N.
臺大學術典藏	2020-12-09T01:38:21Z	Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia	Hsiao C.-C.; NI-CHUNG LEE; Huang P.-H.; Tsai T.-H.
臺大學術典藏	2020-12-09T01:38:21Z	Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia	Li M.-J.; Yang Y.-L.; NI-CHUNG LEE; Jou S.-T.; Lu M.-Y.; Chang H.-H.; Lin K.-H.; Peng C.-T.; Lin D.-T.
臺大學術典藏	2020-12-09T01:38:21Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-09T01:38:20Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Ni-Chung Lee;Yang S.-Y.;Chieh J.-J.;Huang P.-T.;Chang L.-M.;Chiu Y.-N.;Huang A.-C.;Chien Y.-H.;Hwu W.-L.;Chiu M.-J.; NI-CHUNG LEE; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J.
臺大學術典藏	2020-12-09T01:38:20Z	A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature review	Yang S.-H.; Lin H.-I.; Lin C.-H.; NI-CHUNG LEE; Hsueh S.-J.; Hsueh S.-J.;Ni-Chung Lee;Yang S.-H.;Lin H.-I.;Lin C.-H.
臺大學術典藏	2020-12-09T01:38:20Z	Down syndrome in diverse populations	Kruszka P.;Porras A.R.;Sobering A.K.;Ikolo F.A.;La Qua S.;Shotelersuk V.;Chung B.H.Y.;Mok G.T.K.;Uwineza A.;Mutesa L.;Moresco A.;Obregon M.G.;Sokunbi O.J.;Kalu N.;Joseph D.A.;Ikebudu D.;Ugwu C.E.;Okoromah C.A.N.;Addissie Y.A.;Pardo K.L.;Brough J.J.;Ni-Chung Lee;Girisha K.M.;Patil S.J.;Ng I.S.L.;Min B.C.W.;Jamuar S.S.;Tibrewal S.;Wallang B.;Ganesh S.;Sirisena N.D.;Dissanayake V.H.W.;Paththinige C.S.;Prabodha L.B.L.;Richieri-Costa A.;Muthukumarasamy P.;Thong M.-K.;Jones K.L.;Abdul-Rahman O.A.;Ekure E.N.;Adeyemo A.A.;Summar M.;Linguraru M.G.;Muenke M.; Kruszka P.; Porras A.R.; Sobering A.K.; Ikolo F.A.; La Qua S.; Shotelersuk V.; Chung B.H.Y.; Mok G.T.K.; Uwineza A.; Mutesa L.; Moresco A.; Obregon M.G.; Sokunbi O.J.; Kalu N.; Joseph D.A.; Ikebudu D.; Ugwu C.E.; Okoromah C.A.N.; Addissie Y.A.; Pardo K.L.; Brough J.J.; NI-CHUNG LEE; Girisha K.M.; Patil S.J.; Ng I.S.L.; Min B.C.W.; Jamuar S.S.; Tibrewal S.; Wallang B.; Ganesh S.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Prabodha L.B.L.; Richieri-Costa A.; Muthukumarasamy P.; Thong M.-K.; Jones K.L.; Abdul-Rahman O.A.; Ekure E.N.; Adeyemo A.A.; Summar M.; Linguraru M.G.; Muenke M.
臺大學術典藏	2020-12-09T01:38:19Z	A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome	Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:19Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.

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