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显示项目 201-250 / 458 (共10页)
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机构 日期 题名 作者
臺大學術典藏 2020-12-16T02:25:55Z Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:54Z Myopathy in Gaucher disease Tsai L.-K.;Chien Y.-H.;Yang C.-C.;Wuh-Liang Hwu; Tsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:54Z Web Services based newborn screening system with Support Vector Machines Hsieh S.-H.;Hsieh S.-L.;Weng Y.-C.;Chien Y.-H.;Wang Z.;Chen P.-H.;Chang H.-Y.;Lai F.;Wuh-Liang Hwu; Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:54Z Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:54Z Screening for pompe disease and fabry disease Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:53Z Eye anomalies and neurological manifestations in patients with PAX6 mutations. Lee N.C.; Chang T.C.; Chien Y.H.; WUH-LIANG HWU; Chien Y.H.; Huang H.P.
臺大學術典藏 2020-12-16T02:25:53Z Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation Lee N.-C.;Dimmock D.;Wuh-Liang Hwu;Tang L.-Y.;Huang W.-C.;Chinault A.C.;Wong L.-J.C.; Lee N.-C.; Dimmock D.; WUH-LIANG HWU; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏 2020-12-16T02:25:53Z Fibrous dysplasia in a child with mitochondrial A8344G mutation Chen S.-T.;Fan P.-C.;Wuh-Liang Hwu;Wu M.-H.; Chen S.-T.; Fan P.-C.; WUH-LIANG HWU; Wu M.-H.
臺大學術典藏 2020-12-16T02:25:53Z Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease Chen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏 2020-12-16T02:25:52Z Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report Lin L.-C.; WUH-LIANG HWU; Yang R.-C.
臺大學術典藏 2020-12-16T02:25:52Z Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy Tsai L.-K.; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU; Li H.
臺大學術典藏 2020-12-16T02:25:52Z Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Chien Y.H.;Wuh-Liang Hwu; Chien Y.H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:52Z Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU; Hsu C.-J.; Wu C.-C.
臺大學術典藏 2020-12-16T02:25:52Z Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia Lee N.-C.;Marshall J.D.;Collin G.B.;Naggert J.K.;Chien Y.-H.;Tsai W.-Y.;Wuh-Liang Hwu; Lee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:51Z Schizencephaly in LEOPARD Syndrome Liang J.-S.; Chien Y.-H.; WUH-LIANG HWU; Yeh S.-J.; Peng S.-F.
臺大學術典藏 2020-12-16T02:25:51Z Glycogen Storage Disease Type Ib: The First Case in Taiwan Hsiao H.-J.;Chang H.-H.;Wuh-Liang Hwu;Lam C.-W.;Lee N.-C.;Chien Y.-H.; Hsiao H.-J.; Chang H.-H.; WUH-LIANG HWU; Lam C.-W.; Lee N.-C.; Chien Y.-H.
臺大學術典藏 2020-12-16T02:25:51Z Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome Chiang P.-W.;Lee N.-C.;Chien N.;Wuh-Liang Hwu;Spector E.;Tsai A.C.-H.; Chiang P.-W.; Lee N.-C.; Chien N.; WUH-LIANG HWU; Spector E.; Tsai A.C.-H.
臺大學術典藏 2020-12-16T02:25:51Z Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏 2020-12-16T02:25:50Z X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:50Z Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti Lee N.C.; Huang C.H.; WUH-LIANG HWU; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏 2020-12-16T02:25:50Z Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Chiang S.-C.;Dobrovolny R.;Huang A.-C.;Yeh H.-Y.;Chao M.-C.;Lin S.-J.;Kitagawa T.;Desnick R.J.;Hsu L.-W.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏 2020-12-16T02:25:50Z A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome Lai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU; Lu C.-S.
臺大學術典藏 2020-12-16T02:25:50Z Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies Kraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; Chien Y.-H.; WUH-LIANG HWU; Hegele R.A.; Mudd S.H.
臺大學術典藏 2020-12-16T02:25:49Z Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding Lee N.-C.; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU; Ming C.
臺大學術典藏 2020-12-16T02:25:49Z Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study Wraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F.
臺大學術典藏 2020-12-16T02:25:49Z Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study Pineda M.;Wraith J.E.;Mengel E.;Sedel F.;Wuh-Liang Hwu;Rohrbach M.;Bembi B.;Walterfang M.;Korenke G.C.;Marquardt T.;Luzy C.;Giorgino R.;Patterson M.C.; Pineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C.
臺大學術典藏 2020-12-16T02:25:49Z Pompe disease in infants: Improving the prognosis by newborn screening and early treatment Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:48Z A validated disease severity scoring system for adults with type 1 Gaucher disease Weinreb N.J.;Cappellini M.D.;Cox T.M.;Giannini E.H.;Grabowski G.A.;Wuh-Liang Hwu;Mankin H.;Martins A.M.;Sawyer C.;Vom Dahl S.;Yeh M.S.;Zimran A.; Weinreb N.J.; Cappellini M.D.; Cox T.M.; Giannini E.H.; Grabowski G.A.; WUH-LIANG HWU; Mankin H.; Martins A.M.; Sawyer C.; Vom Dahl S.; Yeh M.S.; Zimran A.
臺大學術典藏 2020-12-16T02:25:48Z Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏 2020-12-16T02:25:48Z Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan Niu D.-M.;Chien Y.-H.;Chiang C.-C.;Ho H.-C.;Wuh-Liang Hwu;Kao S.-M.;Chiang S.-H.;Kao C.-H.;Liu T.-T.;Chiang H.;Hsiao K.-J.; Niu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏 2020-12-16T02:25:47Z CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency Chang K.-L.;Wuh-Liang Hwu;Yeh H.-Y.;Lee N.-C.;Chien Y.-H.; Chang K.-L.; WUH-LIANG HWU; Yeh H.-Y.; Lee N.-C.; Chien Y.-H.
臺大學術典藏 2020-12-16T02:25:47Z Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome Hsu C.-J.; WUH-LIANG HWU; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Wu C.-C.;Lu Y.-C.;Chen P.-J.;Yeh P.-L.;Su Y.-N.;Wuh-Liang Hwu;Hsu C.-J.; Wu C.-C.
臺大學術典藏 2020-12-16T02:25:47Z Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation Chen P.W.;Wuh-Liang Hwu;Ho M.C.;Lee N.C.;Chien Y.H.;Ni Y.H.;Lee P.H.; Chen P.W.; WUH-LIANG HWU; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H.
臺大學術典藏 2020-12-16T02:25:46Z FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:46Z Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Lee N.-C.;Akmaev V.R.;Scholl T.;Wuh-Liang Hwu; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:46Z Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Wuh-Liang Hwu; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:45Z Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J.
臺大學術典藏 2020-12-16T02:25:45Z Newborn screening for neuropathic lysosomal storage disorders Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:45Z Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Wuh-Liang Hwu;Lee W.T.;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N.
臺大學術典藏 2020-12-16T02:25:45Z Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M.
臺大學術典藏 2020-12-16T02:25:44Z Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia Fern?Ndez-Irigoyen J.;Santamar?A E.;Chien Y.-H.;Wuh-Liang Hwu;Korman S.H.;Faghfoury H.;Schulze A.;Hoganson G.E.;Stabler S.P.;Allen R.H.;Wagner C.;Mudd S.H.;Corrales F.J.; Fern?ndez-Irigoyen J.; Santamar?a E.; Chien Y.-H.; WUH-LIANG HWU; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏 2020-12-16T02:25:44Z Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:44Z Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints Lee N.-C.;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:44Z Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy Raben N.;Ralston E.;Chien Y.-H.;Baum R.;Schreiner C.;Wuh-Liang Hwu;Zaal K.J.M.;Plotz P.H.; Raben N.; Ralston E.; Chien Y.-H.; Baum R.; Schreiner C.; WUH-LIANG HWU; Zaal K.J.M.; Plotz P.H.
臺大學術典藏 2020-12-16T02:25:44Z Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.
臺大學術典藏 2020-12-16T02:25:43Z Congenital hypopituitarism due to POU1F1 gene mutation Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:43Z Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:43Z Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Lee N.-C.;Keutzer J.;Wuh-Liang Hwu; Chien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:43Z How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Auray-Blais C.;Ntwari A.;Clarke J.T.R.;Warnock D.G.;Oliveira J.P.;Young S.P.;Millington D.S.;Bichet D.G.;Sirrs S.;West M.L.;Casey R.;Wuh-Liang Hwu;Keutzer J.M.;Zhang X.K.;Gagnon R.; Auray-Blais C.; Ntwari A.; Clarke J.T.R.; Warnock D.G.; Oliveira J.P.; Young S.P.; Millington D.S.; Bichet D.G.; Sirrs S.; West M.L.; Casey R.; WUH-LIANG HWU; Keutzer J.M.; Zhang X.K.; Gagnon R.
臺大學術典藏 2020-12-16T02:25:42Z Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease Peng S.S.-F.;Chien Y.-H.;Wuh-Liang Hwu;Liu H.-M.;Tseng I.W.-Y.; Peng S.S.-F.; Chien Y.-H.; WUH-LIANG HWU; Liu H.-M.; Tseng I.W.-Y.

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