公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment | CHEN-CHI WU ; Lu Y.-C.; PEI-JER CHEN ; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J. | Laryngoscope | 15 | 15 | |
2010 | Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic Review | WUH-LIANG HWU ; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao | 台灣醫學 | | 0 | |
1996 | Arylsulfatase A pseudodeficiency in Chinese | WUH-LIANG HWU ; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R. | Human Genetics | 6 | 4 | |
2012 | Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation | Li S.-C.; WUH-LIANG HWU ; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO ; Chen Y.-T.; NI-CHUNG LEE | Journal of Child Neurology | 13 | 10 | |
2022 | Asymptomatic ASS1 carriers with high blood citrulline levels | HUI-AN CHEN ; Hsu, Rai-Hseng; Chang, Kai-Ling; Huang, Yi-Chen; Chiang, Yun-Chen; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu, Pao-Chin; YIN-HSIU CHIEN | Molecular genetics & genomic medicine | 2 | 1 | |
2023 | An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism | Wang, San-Yuan; TE-I WENG ; Chen, Ju-Yu; NI-CHUNG LEE ; Lee, Kun-Chen; Lai, Mei-Ling; YIN-HSIU CHIEN ; WUH-LIANG HWU ; GUAN-YUAN CHEN | Clinica chimica acta; international journal of clinical chemistry | 0 | 0 | |
2015 | Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening | YIN-HSIU CHIEN ; Goldstein J.L.; WUH-LIANG HWU ; Smith P.B.; NI-CHUNG LEE ; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P. | JIMD Reports | 29 | 0 | |
2023 | Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia | Hsu, Rai-Hseng; HUI-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lin, Ju-Li; Weng, Hui-Ling; Lin, Yi-Ting; Lin, Yu-Ching; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |
2015 | Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency | NI-CHUNG LEE ; Muramatsu S.-I.; YIN-HSIU CHIEN ; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Molecular Therapy | 21 | 19 | |
2016 | Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency | Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN ; WUH-LIANG HWU | European Journal of Medicinal Chemistry | 15 | 13 | |
2018 | Biparental inheritance of mitochondrial DNA in humans | Luo S.; Valencia C.A.; 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 | 263 | 227 | |
2017 | Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease | NI-CHUNG LEE ; MING-JANG CHIU et al. ; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU ; Huang A.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chiu M.-J. | Frontiers in Aging Neuroscience | 44 | 36 | |
2008 | Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease | HUEY-LING CHEN ; Wang R.; Chen H.-L.; WUH-LIANG HWU ; YUNG-MING JENG ; MEI-HWEI CHANG ; Ling V. | Journal of Biomedical Science | 6 | 6 | |
2008 | Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia | NI-CHUNG LEE ; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU | Pediatric Neurology | 22 | 20 | |
2006 | Brain development in infantile-onset pompe disease treated by enzyme replacement therapy | YIN-HSIU CHIEN ; NI-CHUNG LEE ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU | Pediatric Research | 73 | 62 | |
2009 | Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia | NI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 18 | 16 | |
1996 | Camptomelic dysplasia: report of one case | PO-NIEN TSAO ; Teng, R. J.; WUH-LIANG HWU ; Tsou Yau, K. I.; Wang, T. R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | | | |
2012 | Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life? | Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU ; Chu S.-Y. | Tzu Chi Medical Journal | 0 | 0 | |
2004 | Carbohydrate deficient glycoprotein syndrome type IA | Chu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 3 | 2 | |
2020 | Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan | Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chuang C.-K.; MEI-HWAN WU ; JOU-KOU WANG ; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. | American Journal of Medical Genetics, Part A | 7 | 7 | |