公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
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 | |
2017 | Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions” | Hsiao C.-C.; NI-CHUNG LEE ; CHAO-WEN LIN ; Tsai T.-H. | Journal of the Formosan Medical Association | 0 | 0 | |
2003 | Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case Report | NI-CHUNG LEE ; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C. | Acta Cardiologica Sinica | 0 | | |
2009 | Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease | Chen L.-R.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; MING-TAI LIN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Journal of Pediatrics | 54 | 42 | |
2019 | A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 13 | 9 | |
2017 | A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Neurology and Therapy | 17 | 0 | |
2021 | RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients | Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN ; Wang Y.-T.; WUH-LIANG HWU ; NI-CHUNG LEE | Scientific Data | 3 | 3 | |
2017 | Russell–Silver syndrome presenting with ambiguous genitalia | Chang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 2 | 2 | |
2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 5 | 5 | |
2008 | Screening for pompe disease and fabry disease | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Clinical Therapeutics | 1 | 1 | |
2013 | Serial cytokine expressions in infants with incontinentia pigmenti | Liao S.-L.; Lai S.-H.; Huang J.-L.; NI-CHUNG LEE ; Lee W.-I. | Immunobiology | 13 | 9 | |
2022 | Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | Tsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; YI-CHING TUNG | Journal of the Formosan Medical Association = Taiwan yi zhi | 2 | 2 | |
2018 | SHOX deficiency in short Taiwanese children: A single-center experience | YI-CHING TUNG ; NI-CHUNG LEE ; WUH-LIANG HWU ; SHIH-YAO LIU ; CHENG-TING LEE ; YIN-HSIU CHIEN ; Tsai W.-Y. | Journal of the Formosan Medical Association | 2 | 2 | |
2009 | Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation | NI-CHUNG LEE ; Dimmock D.; WUH-LIANG HWU ; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C. | Archives of Disease in Childhood | 29 | 18 | |
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 | |