| 臺大學術典藏 |
2018-09-10T05:46:37Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
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Lee, N.-C. and Chien, Y.-H. and Kobayashi, K. and Saheki, T. and Chen, H.-L. and Chiu, P.-C. and Ni, Y.-H. and Chang, M.-H. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWEI CHANG; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T04:43:56Z |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
|
Su, Y.-N. and Lee, C.-N. and Chien, S.-C. and Hung, C.-C. and Chien, Y.-H. and Chen, C.-A.; CHI-AN CHEN; CHIEN-NAN LEE; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2018 |
Biparental inheritance of mitochondrial DNA in humans
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YIN-HSIU CHIEN; Chen S.M.; Brown J.; Dell S.; Li Z.; Wang X.; Gui B.; Slone J.; Lee N.-C.; Zhang J.; Luo S.; Valencia C.A.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2018 |
Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center
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Lin C.-J.; YIN-HSIU CHIEN; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; Hwu W.-L.; Wu C.-J. |
| 臺大學術典藏 |
2018 |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)
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Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2018 |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
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Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2017 |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
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YIN-HSIU CHIEN; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2017 |
Newborn screening for severe combined immunodeficiency in Taiwan
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YIN-HSIU CHIEN; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2017 |
Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency
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He J.X.; Chen T.-X.; Chen X.Y.; Chan K.-W.; Lee P.P.; Mao H.; Wai Luk A.D.; YIN-HSIU CHIEN; Chin T.J.; Nguyen T.V.A.; Shek L.P.; Lee A.C.W.; Latiff A.H.A.; Rawat A.; Gupta A.; Singh S.; Daengsuwan T.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; Yu H.-H.; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L. |
| 臺大學術典藏 |
2017 |
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
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Blom H.J.; Wedell A.; Bari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B. |
| 臺大學術典藏 |
2017 |
Russell–Silver syndrome presenting with ambiguous genitalia
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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. |
