公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2003 | Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both? | WUH-LIANG HWU ; Yu C.-L. | Acta Paediatrica Taiwanica | 0 | 0 | |
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 | |
2001 | Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1] | Wu C.-H.; WUH-LIANG HWU ; JOU-KOU WANG ; Young C.; STEVEN SHINN-FORNG PENG ; MENG-FAI KUO | American Journal of Medical Genetics | 8 | 7 | |
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 | |
2004 | Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. | Chen C.P.; Lin S.P.; Tzen C.Y.; Tsai F.J.; WUH-LIANG HWU ; Wang W. | Prenatal diagnosis | 9 | 0 | |
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 | 74 | 71 | |
2003 | The Diagnosis and Treatment of Glycogen Storage Disease Type Ia | WUH-LIANG HWU | Acta Paediatrica Taiwanica | | 0 | |
2022 | Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization | Huang, Yu-Shan; Hsu, Ching; Chune, Yu-Chang; Liao, I-Cheng; Wang, Hsin; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE ; FEI-PEI LAI | JMIR Bioinformatics and Biotechnology | 0 | 0 | |
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 | |
1994 | Diagnosis of I-cell disease. | WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
1996 | Diagnosis of mucopolysaccharidosis type IIIB | WUH-LIANG HWU | Acta Paediatrica Sinica | 1 | 0 | |
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 | |