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機構	日期	題名	作者
臺大學術典藏	2020-12-16T02:25:34Z	Enhanced interpretation of newborn screening results without analyte cutoff values	Dotsikas Y.; Downing M.; Bonham J.; Stembridge A.; Ludvigson D.; Vianey-Saban C.; Cheillan D.; Zori R.; Torres J.; Dy B.; Bodamer O.; Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Mei B.; Hoffman G.L.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; Chien Y.-H.; WUH-LIANG HWU; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.
臺大學術典藏	2020-12-16T02:25:33Z	Newborn screening for phenylketonuria: Machine learning vs clinicians	Chen W.-H.;Chen H.-P.;Tseng Y.-J.;Hsu K.-P.;Hsieh S.-L.;Chien Y.-H.;Wuh-Liang Hwu;Lai F.; Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; Chien Y.-H.; WUH-LIANG HWU; Lai F.
臺大學術典藏	2020-12-16T02:25:33Z	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.; Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.
臺大學術典藏	2020-12-16T02:25:33Z	Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region	WUH-LIANG HWU; Okuyama T.; But W.M.; Estrada S.; Gu X.; Hui J.; Kosuga M.; Lin S.-P.; Ngu L.-H.; Shi H.; Tanaka A.; Thong M.-K.; Wattanasirichaigoon D.; Wasant P.; McGill J.
臺大學術典藏	2020-12-16T02:25:33Z	Integrating human genome database into electronic health record with sequence alignment and compression mechanism	Chen W.-H.; Lu Y.-W.; Lai F.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Chien Y.-H.; Lee N.-C.; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?	Tsai T.-Y.;Weng C.-Y.;Lin H.-M.;Lai P.-C.;Chou S.-P.;Wuh-Liang Hwu;Chu S.-Y.; Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU; Chu S.-Y.
臺大學術典藏	2020-12-16T02:25:32Z	AADC deficiency. Occurring in humans, modeled in rodents.	WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2020-12-16T02:25:31Z	Diagnosing mucopolysaccharidosis IVA	Wood T.C.; Harvey K.; Beck M.; Burin M.G.; Chien Y.-H.; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.
臺大學術典藏	2020-12-16T02:25:31Z	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.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:31Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-16T02:25:30Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Chien Y.-H.; Shieh Y.-D.; Yang C.-Y.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:30Z	Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians	Chen W.-H.; Hsieh S.-L.; Hsu K.-P.; Chen H.-P.; Su X.-Y.; Tseng Y.-J.; Chien Y.-H.; WUH-LIANG HWU; Lai F.
臺大學術典藏	2020-12-16T02:25:30Z	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	WUH-LIANG HWU; Lee N.-C.; 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.
臺大學術典藏	2020-12-16T02:25:30Z	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.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:29Z	Pompe disease: Early diagnosis and early treatment make a difference	WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:29Z	Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)	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	2020-12-16T02:25:29Z	Analysis of lyso-globotriaosylsphingosine in dried blood spots	Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; Chien Y.-H.; Mar?di L.; WUH-LIANG HWU; Bodamer O.A.
臺大學術典藏	2020-12-16T02:25:28Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	WUH-LIANG HWU; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:28Z	Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease	Chien Y.-H.; Han D.-S.; WUH-LIANG HWU; Thurberg B.L.; Yang W.-S.
臺大學術典藏	2020-12-16T02:25:28Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:28Z	Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation	Chien Y.-H.; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:27Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.; WUH-LIANG HWU; Huang S.-C.; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-16T02:25:27Z	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice	Tsai L.-K.; Chen C.-L.; Ting C.-H.; Lin-Chao S.; WUH-LIANG HWU; Dodge J.C.; Passini M.A.; Cheng S.H.
臺大學術典藏	2020-12-16T02:25:27Z	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:26Z	Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype	Lee D.-H.; Qiu W.-J.; Lee J.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:26Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Chien Y.-H.;Lee N.-C.;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:26Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W.
臺大學術典藏	2020-12-16T02:25:26Z	A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy	Giugliani R.; WUH-LIANG HWU; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A.
臺大學術典藏	2020-12-16T02:25:25Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	Lee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:25Z	Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA	Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏	2020-12-16T02:25:25Z	The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients	Feeney E.J.; Austin S.; Chien Y.-H.; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU; Ralston E.; Kishnani P.S.; Raben N.
臺大學術典藏	2020-12-16T02:25:25Z	Parental discussion of G6PD deficiency and child health: Implications for clinical practice	Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Chien Y.-H.; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening	Chien Y.-H.; Goldstein J.L.; WUH-LIANG HWU; Smith P.B.; Lee N.-C.; 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	2020-12-16T02:25:24Z	Incidence of severe combined immunodeficiency through newborn screening in a Chinese population	Chang K.-L.; Chiang S.-C.; Chien Y.-H.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots	Chen P.-W.; Lee N.-C.; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:23Z	Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes	Chien Y.-H.; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.
臺大學術典藏	2020-12-16T02:25:23Z	Congenital malformations in newborns - A challenge unmet for decades	Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:23Z	Pincer nail deformity as the main manifestation of Clouston syndrome	Hu Y.-H.;Lin Y.-C.;Wuh-Liang Hwu;Lee Y.-M.; Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:22Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency	Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Lee N.-C.; 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.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:21Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; WUH-LIANG HWU; Lin D.-T.
臺大學術典藏	2020-12-16T02:25:21Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:21Z	Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene	Lee N.-C.; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:20Z	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:20Z	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.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:20Z	Integrated care for Down syndrome	Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU

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