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	2017	Russell–Silver syndrome presenting with ambiguous genitalia	Chang I.-F.; YIN-HSIU CHIEN; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2017	A review of Biomarkers for Alzheimer’s Disease in Down Syndrome	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2016	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2016	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.; Chuang C.-K.; Wang C.-H.; YIN-HSIU CHIEN; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; Hwu W.-L.; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2016	Integrated care for Down syndrome	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2016	Long-term outcome for Down syndrome patients with hematopoietic disorders	Lin D.-T.; Hwu W.-L.; Lin K.-H.; Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; YIN-HSIU CHIEN; Lu M.-Y.; Jou S.-T.
臺大學術典藏	2016	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.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2015	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Hwu W.-L.; Byrne B.J.; Lee N.-C.; Muramatsu S.-I.; YIN-HSIU CHIEN; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.
臺大學術典藏	2014	Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease	Er T.-K.; Chen C.-C.; YIN-HSIU CHIEN; Liang W.-C.; Kan T.-M.; Jong Y.-J.
臺大學術典藏	2014	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; YIN-HSIU CHIEN; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2014	The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients	Raben N.; Ralston E.; Kishnani P.S.; Feeney E.J.; Austin S.; YIN-HSIU CHIEN; Mandel H.; Schoser B.; Prater S.; Hwu W.-L.
臺大學術典藏	2013	Analysis of lyso-globotriaosylsphingosine in dried blood spots	Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN; Mar?di L.; Hwu W.-L.; Bodamer O.A.
臺大學術典藏	2013	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	Lee N.-C.; Shieh Y.-D.; YIN-HSIU CHIEN; 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	2013	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; YIN-HSIU CHIEN; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2013	Diagnosing mucopolysaccharidosis IVA	Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; Hwu W.-L.; 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	2013	AADC deficiency. Occurring in humans, modeled in rodents.	YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2013	Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease	YIN-HSIU CHIEN; Han D.-S.; Hwu W.-L.; Thurberg B.L.; Yang W.-S.
臺大學術典藏	2013	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.; YIN-HSIU CHIEN; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2013	Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype	Lee W.-I.; Huang J.-L.; Yeh K.-W.; Yang M.-J.; Lai M.-C.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin S.-J.; Jaing T.-H.; Chen S.-H.; Hsieh M.-Y.; Yu H.-H.; YIN-HSIU CHIEN; Shyur S.-D.
臺大學術典藏	2013	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	YIN-HSIU CHIEN; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2012	Newborn screening for phenylketonuria: Machine learning vs clinicians	Hsu K.-P.; Tseng Y.-J.; Chen H.-P.; Chen W.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.
臺大學術典藏	2012	Integrating human genome database into electronic health record with sequence alignment and compression mechanism	Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2012	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2012	Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2011	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Wu M.-H.; Chen C.-A.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.

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