公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2005 | KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 | Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU | Molecular Vision | 21 | 17 | |
2007 | Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism | CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chiang S.-C.; CHUN-HWEI TAI ; RUEY-MEEI WU | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 8 | 7 | |
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 | |
2000 | Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation | WUH-LIANG HWU ; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; WEN-YU TSAI | Journal of the Formosan Medical Association | 9 | 7 | |
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 | |
1998 | Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene | Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU ; Lam C.-W. | Human Genetics | 9 | 11 | |
2003 | Living-related liver transplantation for methylmalonic acidemia: Report of one case | Hsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; FRANK LEIGH LU ; HUEY-LING CHEN ; Ho M.-J.; PO-HUANG LEE ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 24 | 0 | |
2019 | Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Ke, Yu-Yuan; Hsu, Chia-Chi; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; Lin, Ju-Li; SHAU-PING LIN | Pediatrics and Neonatology | 8 | 6 | |
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 | |
2016 | Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; YIN-HSIU CHIEN ; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; WUH-LIANG HWU ; Ke, Yu-Yuan; SHAU-PING LIN | Molecular Genetics and Metabolism Reports | 21 | 18 | |
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 | |
2017 | Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease | Zeng Y.-T.; WUH-LIANG HWU ; Torng P.-C.; NI-CHUNG LEE ; JENG-YI SHIEH ; LU LU ; YIN-HSIU CHIEN | European Journal of Paediatric Neurology | 13 | 12 | |
2009 | A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome | Lai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU ; Lu C.-S. | European Journal of Neurology | 33 | 24 | |
2023 | Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C | Chen, Tsu-I; Hsu, Pei-Chun; NI-CHUNG LEE ; Liu, Yu-Han; Wang, Hao-Chun; Lu, Yen-Hsu; YIN-HSIU CHIEN ; WUH-LIANG HWU | Heliyon | 0 | 0 | |
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 | |