第 1 到 18 筆結果,共 18 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 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 | |||
2 | 2023 | Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia | Chen, Pin-Shiuan; MENG-CHEN WU ; CHUN-HWEI TAI ; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Lin, Han-I; NI-CHUNG LEE ; CHIN-HSIEN LIN | Parkinsonism & related disorders | 1 | 1 | |
3 | 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 | |
4 | 2023 | B-cell Immunodeficiency in a Patient with Pearson Syndrome | Chen, Yu-Chia; SHIANN-TANG JOU ; NI-CHUNG LEE ; BOR-LUEN CHIANG ; HSIN-HUI YU | Journal of clinical immunology | 0 | 0 | |
5 | 2022 | Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy | Hsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
6 | 2021 | Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28 | Chen P.-S.; NI-CHUNG LEE ; Fan S.-P.; CHUN-HWEI TAI ; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; JYH-HORNG CHEN | Movement Disorders | 0 | 0 | |
7 | 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 | |
8 | 2019 | Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency | HSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 5 | 4 | |
9 | 2019 | Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia | JYH-MING JIMMY JUANG ; CHIA-TUNG SHUN ; YIH-SHARNG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN | Genetics in Medicine | 2 | 1 | |
10 | 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 | |
11 | 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 | |
12 | 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 | |
13 | 2013 | Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation | Chen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Human Mutation | 13 | 12 | |
14 | 2013 | Lung toxicity of hydroxypropyl-β-cyclodextrin infusion | YIN-HSIU CHIEN ; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism | 28 | 24 | |
15 | 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 | |
16 | 2010 | CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency | Chang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 17 | 15 | |
17 | 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 | |
18 | 2006 | α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5] | NI-CHUNG LEE ; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. | Nephrology Dialysis Transplantation | 4 | 3 |