公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2016 | Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme | STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN | Orphanet Journal of Rare Diseases | 17 | 19 | |
2009 | Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome | Chiang P.-W.; NI-CHUNG LEE ; Chien N.; WUH-LIANG HWU ; Spector E.; Tsai A.C.-H. | American Journal of Medical Genetics, Part A | 32 | 30 | |
2010 | Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation | Chen P.W.; WUH-LIANG HWU ; MING-CHIH HO ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YEN-HSUAN NI ; PO-HUANG LEE | Pediatric Transplantation | 33 | 32 | |
2023 | Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency | Chen, Pin-Wen; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Molecular genetics and metabolism | 1 | 0 | |
2021 | Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development | Wu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE | Journal of assisted reproduction and genetics | 11 | 10 | |
2021 | A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan | Kuo, Yih-Chih; HSUEH-WEN HSUEH ; Hsueh, Sung-Ju; NI-CHUNG LEE ; MING-JU HSIEH ; CHI-CHAO CHAO ; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; Yang, Chih-Chao | Neuromuscular disorders : NMD | 3 | 3 | |
2016 | Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia | MENG-JU LI ; YUNG-LI YANG ; NI-CHUNG LEE ; SHIANN-TANG JOU ; MENG-YAO LU ; HSIU-HAO CHANG ; Lin K.-H.; Peng C.-T.; Lin D.-T. | Journal of the Formosan Medical Association | 12 | 9 | |
2021 | Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness | Cheng, Chang-Yu; Chang, Kai-Chieh; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; PEI-HSIN HUANG ; Chih-Chao Yang ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | Neurology: Clinical Practice | 1 | 1 | |
2020 | Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center | Liu M.-Y.; CHENG-TING LEE ; NI-CHUNG LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y. | Journal of the Formosan Medical Association | 3 | 0 | |
2006 | Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Kobayashi K.; Saheki T.; HUEY-LING CHEN ; Chiu P.-C.; YEN-HSUAN NI ; MEI-HWEI CHANG ; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 28 | 15 | |
2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
2020 | Towards a reference genome that captures global genetic diversity | Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE ; WUH-LIANG HWU ; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan | Nature Communications | 15 | 16 | |
2014 | Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Human Gene Therapy | 15 | 15 | |
2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 | |
2024 | Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights | HUI-AN CHEN ; Hsu, Rai Hseng; Chen, Li Chu; NI-CHUNG LEE ; Chiu, Pao Chin; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | | | |
2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN | Scientific Reports | 2 | 2 | |
2020 | UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis | Liao, Chun-Hua; NI-CHUNG LEE ; SHIANN-TANG JOU ; BOR-LUEN CHIANG ; HSIN-HUI YU | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 1 | 1 | |
2011 | Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia | Wei S.-H.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; WANG-TSO LEE | Journal of Child Neurology | 11 | 11 | |
2023 | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | Hsu, Rai-Hseng; Lee, Chen-Hao; YIN-HSIU CHIEN ; Lin, Shuan-Pei; Hung, Miao-Zi; Chen, Nai-Chi; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |
2020 | Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 | PAUL-CHEN HSIEH ; Chen-Chi Wu ; NI-CHUNG LEE ; JUNG-HSIEN HSIEH ; YI-HUA LIAO | Dermatologica Sinica | 0 | 0 | |