公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR | Hung C.-C.; SHIN-YU LIN ; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE ; WEN-FANG CHENG ; Chen C.-P.; Lin, Win-Li ; CHIEN-NAN LEE ; Su Y.-N. | Electrophoresis | 5 | 6 | |
2022 | Impact of genetic tests on survivors of paediatric sudden cardiac arrest | SHUENN-NAN CHIU ; JYH-MING JIMMY JUANG ; WEI-CHIEH TSENG ; Chen, Wen-Pin; NI-CHUNG LEE ; MEI-HWAN WU | Archives of Disease in Childhood | 0 | 0 | |
2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
2022 | The incorporation of next-generation sequencing into pediatric care | NI-CHUNG LEE | Pediatrics and neonatology | 1 | 1 | |
2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
2005 | Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis. | NI-CHUNG LEE ; Hwang B.; Chen C.H.; Niu D.M. | Journal of the Formosan Medical Association = Taiwan yi zhi | 3 | 3 | |
2021 | Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome | Fan, Sung-Pin; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; Chang, Koping; NI-CHUNG LEE ; PEI-HSIN HUANG ; Yang, Chih-Chao | eNeurologicalSci | 1 | 0 | |
2012 | Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing | Kim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S. | Molecular Genetics and Metabolism | 28 | 24 | |
2023 | Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency | Hsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN | Orphanet journal of rare diseases | | | |
2011 | Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Journal of Pediatrics | 84 | 70 | |
2011 | Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy | CHUN-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; JOU-KOU WANG ; Chen L.-R.; CHUN-WEI LU ; MING-TAI LIN ; SHUENN-NAN CHIU ; Chiu H.-H.; MEI-HWAN WU | Journal of Cardiac Failure | 27 | 24 | |
2020 | Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma | Weng, Hui-Ling; FENG-JUNG YANG ; YIN-HSIU CHIEN ; PEY-RONG CHEN ; Lin, Zi-Xuan; NI-CHUNG LEE ; WUH-LIANG HWU | Journal of nephrology | 0 | 0 | |
2021 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity | Li, Jeng-Lin; NI-CHUNG LEE ; Chen, Pin-Shiuan; Lee, Gin Hoong; RUEY-MEEI WU | Movement disorders clinical practice | 3 | 2 | |
2017 | A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature review | Hsueh S.-J.; NI-CHUNG LEE ; SHU-HUA YANG ; Lin H.-I.; CHIN-HSIEN LIN | BMC Neurology | 5 | 5 | |
2022 | Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency | Tai, Chun-Hwei; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG ; WUH-LIANG HWU | Molecular therapy : the journal of the American Society of Gene Therapy | 48 | 44 | |
2013 | Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Yang C.C.; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 34 | |
2006 | Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency | NI-CHUNG LEE ; Cheng L.-Y.; Liu T.-T.; Hsiao K.-J.; Chiu P.-C.; Niu D.-M. | Molecular Genetics and Metabolism | 14 | 14 | |
2008 | Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency | Liu K.-M.; Liu T.-T.; NI-CHUNG LEE ; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. | Archives of Neurology | 22 | 14 | |
2016 | Long-term outcome for Down syndrome patients with hematopoietic disorders | MENG-JU LI ; NI-CHUNG LEE ; YUNG-LI YANG ; Yen H.-J.; HSIU-HAO CHANG ; YIN-HSIU CHIEN ; MENG-YAO LU ; SHIANN-TANG JOU ; Lin K.-H.; WUH-LIANG HWU ; Lin D.-T. | Journal of the Formosan Medical Association | 5 | 4 | |
2015 | Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth | YIN-HSIU CHIEN ; NI-CHUNG LEE ; CHUN-AN CHEN ; Tsai, Fuu-Jen; Tsai, Wen-Hui; JENG-YI SHIEH ; Huang, Hsiang-Ju; WEI-CHUNG HSU ; TZU-HSUN TSAI ; WUH-LIANG HWU | Journal of Pediatrics | 105 | 89 | |