公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2017 | Management of confirmed newborn-screened patients with pompe disease across the disease spectrum | Kronn D.F.; Day-Salvatore D.; WUH-LIANG HWU ; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S. | Pediatrics | 42 | 30 | |
2018 | Management of Leigh syndrome: Current status and new insights | Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU ; Lian Q. | Clinical Genetics | 16 | 12 | |
2008 | Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring | Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D.; Dahl, S. vom; Goldblatt, J.; Grabowski, G. A.; Hollak, C. E. M.; WUH-LIANG HWU ; Maas, M.; Martins, A. M.; Mistry, P. K.; Pastores, G. M.; Tylki-Szymanska, A.; Yee, J.; Weinreb N. | Journal of Inherited Metabolic Disease | 112 | 93 | |
2003 | Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case | Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
2005 | Mapping of psoriasis to 17q terminus | WUH-LIANG HWU ; Yang C.-F.; Fann C.S.J.; Chen C.-L.; TSEN-FANG TSAI ; Chein Y.-H.; Chiang S.-C.; Chen C.-H.; Hung S.-I.; Wu J.-Y.; Chen Y.-T. | Journal of Medical Genetics | 45 | 39 | |
1992 | Measurement of urinary orotic acid by gas chromatography-mass spectrometry. | WUH-LIANG HWU ; Chou S.P.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 3 | 0 | |
2000 | Metabolic disorders mimicking Reye's syndrome | Chang P.-F.; Huang S.-F.; WUH-LIANG HWU ; Hou J.-W.; YEN-HSUAN NI ; MEI-HWEI CHANG | Journal of the Formosan Medical Association | 11 | 7 | |
2019 | Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups | Chu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; REY-HENG HU ; MING-CHIH HO ; Niu D.-M. | Orphanet Journal of Rare Diseases | 24 | 21 | |
2009 | Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study | Pineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU ; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C. | Molecular Genetics and Metabolism | 155 | 137 | |
2022 | A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome | Chu, Chia-Mei; HSIN-HUI YU ; Kao, Tsai-Ling; Chen, Yi-Hsuan; Lu, Hsuan-Hsuan; EN-TING WU ; Yang, Yun-Li; CHIN-HSIEN LIN ; SHIN-YU LIN ; Tsai, Meng-Ju Melody; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-PIN CHEN ; NI-CHUNG LEE ; CHI-KANG TSENG | NPJ genomic medicine | 2 | 2 | |
2008 | Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter | SHU-CHIEN HUANG ; EN-TING WU ; SHUENN-NAN CHIU ; WUH-LIANG HWU ; MEI-HWAN WU ; SHOEI-SHEN WANG | Journal of Thoracic and Cardiovascular Surgery | 4 | 4 | |
2022 | The modern face of newborn screening | YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 3 | 2 | |
2020 | Modified frameless stereotactic system for intracerebral delivery of viral vector in young children | CHUN-HWEI TAI ; WUH-LIANG HWU ; RUEY-MEEI WU ; SHENG-HONG TSENG | Operative Neurosurgery | 0 | 0 | |
2021 | Molecular analysis of vietnamese patients with mucopolysaccharidosis type i | Can N.T.B.; Tran D.M.; Bui T.P.; Nguyen K.N.; Nguyen H.H.; Nguyen T.V.; WUH-LIANG HWU ; Tomatsu S.; Vu D.C. | Life | 0 | 0 | |
2004 | Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia | WUH-LIANG HWU ; Lu M.-Y.; Hwa K.-Y.; Fan S.-W.; Lee Y.-M. | Annals of Neurology | 12 | 11 | |
1995 | Molecular diagnosis of Gaucher disease type II. | Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Liu S.C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
2004 | Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T.; Chang K.-W.; YAO-HSU YANG ; KAI-HSIN LIN ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 7 | 0 | |
1999 | Molecular genetic study of Pompe disease in Chinese patients in Taiwan | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.-M. | Human Mutation | 64 | | |
2001 | Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan | Wong L.-J.C.; WUH-LIANG HWU ; Dai P.; Chen T.-J. | Molecular Genetics and Metabolism | 15 | 12 | |
2015 | Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation | Hsiue H.-C.; NI-CHUNG LEE ; Tsai H.-B.; Yang C.-C.; Wu C.-S.; WANG-TSO LEE ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE | Intensive Care Medicine | 1 | 1 | |