公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
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 | |
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 | |
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 | |
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 | |
2022 | Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course | Chiang, Che-Ming; YUNG-MING JENG ; MING-CHIH HO ; Lai, Ming-Wei; Li, Huei-Ying; PEI-LUNG CHEN ; NI-CHUNG LEE ; JIA-FENG WU ; YU-CHUN CHIU ; Liou, Bang-Yu; YEN-HSUAN NI ; HONG-YUAN HSU ; MEI-HWEI CHANG ; HUEY-LING CHEN | JGH open : an open access journal of gastroenterology and hepatology | 1 | 1 | |
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 | |
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 | |
2022 | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | HSUEH-WEN HSUEH ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; FENG-JUNG YANG ; WANG-TSO LEE ; Lin, Ru-Jen; WUH-LIANG HWU ; Chih-Chao Yang ; NI-CHUNG LEE | Journal of the Formosan Medical Association = Taiwan yi zhi | 1 | 1 | |
2017 | Down syndrome in diverse populations | Kruszka P.; Porras A.R.; Sobering A.K.; Ikolo F.A.; La Qua S.; Shotelersuk V.; Chung B.H.Y.; Mok G.T.K.; Uwineza A.; Mutesa L.; Moresco A.; Obregon M.G.; Sokunbi O.J.; Kalu N.; Joseph D.A.; Ikebudu D.; Ugwu C.E.; Okoromah C.A.N.; Addissie Y.A.; Pardo K.L.; Brough J.J.; NI-CHUNG LEE ; Girisha K.M.; Patil S.J.; Ng I.S.L.; Min B.C.W.; Jamuar S.S.; Tibrewal S.; Wallang B.; Ganesh S.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Prabodha L.B.L.; Richieri-Costa A.; Muthukumarasamy P.; Thong M.-K.; Jones K.L.; Abdul-Rahman O.A.; Ekure E.N.; Adeyemo A.A.; Summar M.; Linguraru M.G.; Muenke M. | American Journal of Medical Genetics, Part A | 66 | 61 | |
2022 | Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; WEN-CHIN WENG ; Chen L.-C.; Huang Y.-H.; Wu C.-S.; WUH-LIANG HWU | Neurological Sciences | 14 | 10 | |
2023 | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum | Chung, Chi-Ting; NI-CHUNG LEE ; Fan, Sung-Pin; Hung, Miao-Zi; YEN-HENG LIN ; CHIH-HAO CHEN ; Tun Jao | Epilepsy and Behavior Reports | 2 | 1 | |
2020 | Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences | YIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 28 | 26 | |
2008 | Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program | YIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; CHUN-AN CHEN ; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 207 | 178 | |
2012 | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU | Pediatric Neurology | 20 | 16 | |
2017 | Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial | YIN-HSIU CHIEN ; NI-CHUNG LEE ; SHENG-HONG TSENG ; CHUN-HWEI TAI ; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU | The Lancet Child and Adolescent Health | 95 | 88 | |
2014 | Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism | I-JUNG TSAI ; WUH-LIANG HWU ; SHU-CHIEN HUANG ; NI-CHUNG LEE ; EN-TING WU ; YIN-HSIU CHIEN ; Tsau Y.-K. | Pediatric Nephrology | 14 | 13 | |