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機構	日期	題名	作者
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.

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