公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2021 | PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports | Chang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE ; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-Yow | Frontiers in pediatrics | 5 | 5 | |
2018 | Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease | Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 15 | 0 | |
2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN | Movement disorders : official journal of the Movement Disorder Society | 2 | 0 | |
2023 | A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7 | Lee, Chee-Seng; YEN-HSUAN NI ; HUEY-LING CHEN ; JIA-FENG WU ; HONG-YUAN HSU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; TING-AN YEN ; Chua, Huey-Huey; Chen, Yu-Ju; Wang, Yu-Lin; MEI-HWEI CHANG | Journal of pediatric gastroenterology and nutrition | 5 | 3 | |
2021 | A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease | Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN | Scientific Reports | 1 | 1 | |
2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 129 | 107 | |
2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Pediatrics | 114 | 91 | |
2019 | Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese | Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; NI-CHUNG LEE ; Fung C.-W.; Chung B.H.-Y. | npj Genomic Medicine | 27 | 23 | |
2014 | Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Muscle and Nerve | 6 | 6 | |
2013 | Promising outcomes in glutaric aciduria type i patients detected by newborn screening | Lee C.-S.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Metabolic Brain Disease | 34 | 26 | |
2009 | Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti | NI-CHUNG LEE ; Huang C.H.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chang Y.Y.; Chen C.H.; TSANG-MING KO | Clinical Genetics | 7 | 6 | |
2021 | Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflex | Yan Y.J.; Tsai Y.C.; MEI-LAN KO ; NI-CHUNG LEE ; Chiou J.C.; Ou-Yang M. | Review of Scientific Instruments | 2 | 2 | |
2023 | Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation | Wu, Jeng-Hung; Wang, Yu-Jui; JAU-YU LIAU ; NI-CHUNG LEE ; EN-TING WU | Pediatrics and neonatology | 0 | 0 | |
2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 39 | 38 | |
2021 | Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios | SHIN-YU LIN ; GWO-TSANN CHUANG ; Hung C.-H.; WEI-CHOU LIN ; YUNG-MING JENG ; TING-AN YEN ; Chang K.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIEN-NAN LEE ; I-JUNG TSAI ; NI-CHUNG LEE | Frontiers in Genetics | 1 | 1 | |
2010 | Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 2 | 2 | |
2013 | Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency | NI-CHUNG LEE ; Shieh Y.-D.; YIN-HSIU CHIEN ; KAI-YUAN TZEN ; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; WUH-LIANG HWU | Neurobiology of Disease | 33 | 30 | |
2020 | REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample | NI-CHUNG LEE ; WEI-CHUNG HSU ; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG HWU ; PEI-LIN LEE | Journal of the Formosan Medical Association | 14 | 14 | |
2019 | Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments | Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 9 | 7 | |