第 1 到 35 筆結果,共 35 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 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 | |
2 | 2022 | Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome | Ou, Tsung-Ying; Tsai, Meng-Che; Kuo, Pao-Lin; NI-CHUNG LEE ; Chou, Yen-Yin | Taiwanese journal of obstetrics & gynecology | 0 | 0 | |
3 | 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 | |
4 | 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 | |
5 | 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 | |
6 | 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 | |
7 | 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 | |
8 | 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 | |
9 | 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 | |
10 | 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 | |
11 | 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 | |
12 | 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 | |
13 | 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 | |
14 | 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 | |
15 | 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 | |
16 | 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 | |
17 | 2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
18 | 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 | |
19 | 2020 | Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy | CHIN-HSIEN LIN ; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; SHIOU-RU TZENG ; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; RUOH-FANG YEN ; NI-CHUNG LEE ; Lo, Wen-Chun; Hung, Yu-Chien; CHIH-CHIANG CHAN ; Ke, Yi-Ci; CHI-CHAO CHAO ; SUNG-TSANG HSIEH ; Farrer, Matthew; RUEY-MEEI WU | Brain : a journal of neurology | 29 | 32 | |
20 | 2003 | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case | NI-CHUNG LEE ; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F. | Acta Paediatrica Taiwanica | 2 | 0 | |
21 | 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 | |
22 | 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 | |||
23 | 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 | |
24 | 2017 | Gene therapy with modified U1 small nuclear RNA | WUH-LIANG HWU ; Lee Y.-M.; NI-CHUNG LEE | Expert Review of Endocrinology and Metabolism | 3 | 0 | |
25 | 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 | |
26 | 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 | |
27 | 2013 | Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 0 | 1 | |
28 | 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 | |
29 | 2015 | Congenital malformations in newborns - A challenge unmet for decades | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and Neonatology | 1 | 1 | |
30 | 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 | |
31 | 2020 | A case of GNE myopathy mimicking hereditary motor neuropathy | Huang Y.-N.; HUNG-JUI CHUANG ; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; NI-CHUNG LEE ; CHI-CHAO CHAO ; PEI-HSIN HUANG ; Lee Y.-C.; Lin K.-P.; Yang C.-C.; SUNG-TSANG HSIEH | European journal of neurology | 4 | 4 | |
32 | 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 | |
33 | 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 | |
34 | 2020 | Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report | Chang, Kai-Chieh; Kuo, Yih-Chih; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; Yang, Chih-Chao; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | eNeurologicalSci | 0 | 0 | |
35 | 2016 | Advances in newborn screening for Pompe disease and resulting clinical outcomes | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Expert Opinion on Orphan Drugs | 0 | 0 |