公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2007 | Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand... | Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN ; Ralston E.; Nagaraju K.; Plotz P.H. | Autophagy | 99 | 98 | |
2019 | Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD | Molecular Genetics and Metabolism | 25 | 20 | |
2007 | Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE | Journal of inherited metabolic disease | 13 | 13 | |
2007 | The design and implementation of a next generation information system for newborn screening | Tu, C.-M.; Tang, M.-Y.; Chang, H.-Y.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; FEI-PEI LAI | HEALTHCOM 2007: Ubiquitous Health in Aging Societies - 2007 9th International Conference on e-Health Networking, Application and Services | 6 | 0 | |
2008 | Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence | Ralston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N. | Journal of Structural Biology | 47 | 46 | |
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. | Clinica Chimica Acta | 6 | 5 | |
2020 | Development of newborn screening for pompe disease | WUH-LIANG HWU ; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 0 | 0 | |
2010 | Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening | NI-CHUNG LEE ; Tang N.L.-S.; YIN-HSIU CHIEN ; CHUN-AN CHEN ; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 84 | 64 | |
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.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J. | Journal of Inherited Metabolic Disease | 73 | 71 | |
2014 | Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots | Chen P.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU | Clinica Chimica Acta | 29 | 27 | |
2012 | Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system | Chen S.-T.; Su Y.-N.; YEN-HSUAN NI ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chang C.-C.; HUEY-LING CHEN ; MEI-HWEI CHANG | Journal of Pediatrics | 15 | 12 | |
2023 | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | Chen, Pin-Shiuan; CHI-CHAO CHAO ; LI-KAI TSAI ; Huang, Hsin-Yi; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; NI-CHUNG LEE ; HSUEH-WEN HSUEH ; Chih-Chao Yang | Journal of neuromuscular diseases | 1 | 1 | |
2020 | Dietary intake and nutritional status of patients with phenylketonuria in Taiwan | Weng, Hui-Ling; FENG-JUNG YANG ; PEY-RONG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Scientific reports | 4 | 3 | |
2010 | Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy | Raben N.; Ralston E.; YIN-HSIU CHIEN ; Baum R.; Schreiner C.; WUH-LIANG HWU ; Zaal K.J.M.; Plotz P.H. | Molecular Genetics and Metabolism | 62 | 57 | |
2004 | Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment | STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU | American Journal of Neuroradiology | 26 | 22 | |
2002 | DiGeorge sequence with hypogammaglobulinemia: A case report | YIN-HSIU CHIEN ; YAO-HSU YANG ; Chu S.-Y.; WUH-LIANG HWU ; Kuo P.-L.; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 6 | 0 | |
2018 | Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment? | YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; Fang J.-Y. | European Journal of Neurology | 5 | 4 | |
2004 | Distal Arthrogryposis in Two Sisters Born to Different Fathers [4] | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.-C. | American Journal of Medical Genetics | 4 | 4 | |
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 ; BOR-LUEN CHIANG ; 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.; HSIN-HUI YU ; YAO-HSU YANG ; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU ; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. | Immunobiology | 45 | 38 | |
2020 | Diversity in heritable disorders of connective tissue at a single center | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Connective Tissue Research | 4 | 2 | |