| 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. |
| 臺大學術典藏 |
2011 |
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif
|
Er T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN; Chang J.-G.; Hwang J.-K.; Jong Y.-J. |
| 臺大學術典藏 |
2011 |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
|
Abdenur J.E.; Cameron C.A.; McHugh D.M.S.; Ramos D.E.C.; Castilla A.M.; Cassanello M.; Carlisle C.; Caruso U.; Cariappa R.; Carducci C.; Campbell C.; Camilot M.; Caldwell S.G.; Caggana M.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Fijolek K.F.; Evans C.; Fawbush S.; Eroh S.; Espada M.; El Mougy F.; Eckerd B.M.; Eaton R.; Elvers B.; Rueda I.; Dymerski M.; Dy B.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; YIN-HSIU CHIEN; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Ibarra-Gonz?lez I.; Hynes J.; Hwu W.-L.; Hunt P.R.; Hougaard D.M.; Hughes K.; Hopkins P.V.; Hoggatt P.; Hoffman W.; Hoffman G.L.; Himstedt L.; Hietala A.; He M.; Hassan F.A.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Lloyd-Puryear M.A.; Lindner M.; Linard S.; Lim C.; Lesko B.; Lewis B.; Lepage J.; Lemes A.; Lehotay D.C.; Lee S.-Y.; Lavochkin M.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Peterson C.; Pass K.A.; Patel P.; Pasquini E.; Park H.-D.; Pasquali M.; Reoyo S.P.; Papakonstantinou V.; Ojodu J.; Ombrone D.; Oltarzewski M.; Oglesbee D.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Nikoloudis D.; Norgaard-Pedersen B.; Sinclair G.; Shone S.M.; Sevier D.W.; Sesser D.E.; Seashore M.R.; Seeterlin M.A.; Scott P.; Schweitzer B.; Schoos R.; Schenone A.; Santiago-Borrero P.; Garc?a-Blanco M.I.S.; Sahai I.; Saban C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Watson M.S.; Vorster B.C.; Vincent M.-F.; Von D?beln U.; Vela-Amieva M.; Vilarinho L.; Vallance H.; Valiente A.G.; Tzanakos N.; Turner K.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M. |
| 臺大學術典藏 |
2011 |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng S.S.-F.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y. |
| 臺大學術典藏 |
2011 |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
|
Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; YIN-HSIU CHIEN; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. |
| 臺大學術典藏 |
2010 |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.; Hwu W.L.; Ho M.C.; Lee N.C.; YIN-HSIU CHIEN; Ni Y.H.; Lee P.H. |
| 臺大學術典藏 |
2009 |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien, Y.-H. and Lee, N.-C. and Thurberg, B.L. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Huang, A.-C. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWAN WU; YIN-HSIU CHIEN; WUH-LIANG HWU; PEI-HSIN HUANG |
| 臺大學術典藏 |
2009 |
Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti
|
Lee N.C.; Huang C.H.; Hwu W.L.; YIN-HSIU CHIEN; Chang Y.Y.; Chen C.H.; Ko T.M. |
| 臺大學術典藏 |
2009 |
Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
|
Hwu W.-L.; YIN-HSIU CHIEN; 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 |
2009 |
Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
|
Palmieri F.; Santorelli F.M.; Pierri C.L.; Hernandez J.M.; Martinez-Hernandez E.; Walter J.; Besley G.; Aldamiz-Echevarria L.; Scarano G.; Melone M.A.B.; Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M. |
| 臺大學術典藏 |
2008 |
A newborn screening system based on Service-Oriented Architecture embedded Support Vector Machine
|
Hsieh S.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Wang Z.; Weng Y.-C.; Lai F. |
| 臺大學術典藏 |
2008 |
Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease
|
Wu E.-T.; Chiu S.-N.; Wang C.-C.; Huang P.-K.; YIN-HSIU CHIEN; Hwu W.-L.; Wang J.-K.; Wu M.-H. |
| 臺大學術典藏 |
2008 |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
|
Lee N.-C.; YIN-HSIU CHIEN; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2008 |
Early detection of glutaric aciduria type I by newborn screening in Taiwan
|
Hsieh C.-T.; Hwu W.-L.; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2007 |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
YIN-HSIU CHIEN; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2007 |
Slipped capital femoral epiphysis as a complication of growth hormone therapy.
|
Wang S.Y.; Tung Y.C.; Tsai W.Y.; YIN-HSIU CHIEN; Lee J.S.; Hwu W.L. |
| 臺大學術典藏 |
2006 |
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
|
Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Peng S.-F. |
| 臺大學術典藏 |
2006 |
De novo mutation in the BTK of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma
|
Lin M.-T.; YIN-HSIU CHIEN; Shyur S.-D.; Huang L.-H.; Chiang Y.-C.; Wen D.-C.; Liang P.-H.; Yang H.-C. |
| 臺大學術典藏 |
2005 |
Spectrum of hypermethioninemia in neonatal screening
|
Hwu W.-L.; Chiang S.-C.; Huang A.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2004 |
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan
|
YIN-HSIU CHIEN; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L. |
| 臺大學術典藏 |
2004 |
Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]
|
Hsu C.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2004 |
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
|
YIN-HSIU CHIEN; Hwu W.L.; Ariga T. |
| 臺大學術典藏 |
2004 |
Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review
|
Hwu W.-L.; Chu S.-Y.; Tsai W.-Y.; YIN-HSIU CHIEN; Fang J.-S.; Ku C.-W.; Chang P.-Y. |
| 臺大學術典藏 |
2003 |
Gene symbol: Btk: Disease: Bruton agammaglobulinemia
|
YIN-HSIU CHIEN |
| 臺大學術典藏 |
2003 |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hsui J.-Y.; YIN-HSIU CHIEN; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2003 |
Association between levels of TNF-α and TNF-α promoter - 308 A/A polymorphism in children with kawasaki disease
|
Chiang B.-L.; YIN-HSIU CHIEN; Chang K.-W.; Yang Y.-H.; Lu M.-Y.; Lin Y.-T. |
