公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2016 | Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography | Liu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H. | Clinica Chimica Acta | 4 | 4 | |
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 | |
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 | |
2022 | The modern face of newborn screening | YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 3 | 2 | |
2021 | Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants | Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN ; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R. | Human Mutation | 13 | 12 | |
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 | |
2019 | Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease | Chin C.-Y.; Hsu C.-T.; Lee C.-S.; YIN-HSIU CHIEN ; JIA-FENG WU | Pediatrics and Neonatology | 2 | 2 | |
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 | |
2015 | Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes | YIN-HSIU CHIEN ; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU ; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J. | Orphanet Journal of Rare Diseases | 35 | 26 | |
2009 | A multi model voting enhancement for newborn screening healthcare information system | Hsieh, S.-H.; Cheng, P.-H.; Hsieh, S.-L.; Chen, P.-H.; Weng, Y.-C.; YIN-HSIU CHIEN ; Wang, Z.; FEI-PEI LAI | Studies in Computational Intelligence | 0 | 0 | |
2012 | Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer | WEN-HUNG KUO ; PO-HAN LIN ; Huang A.-C.; YIN-HSIU CHIEN ; Liu T.-P.; YEN-SHEN LU ; Bai L.-Y.; Sargeant A.M.; CHING-HUNG LIN ; ANN-LII CHENG ; FON-JOU HSIEH ; WUH-LIANG HWU ; KING-JEN CHANG | Journal of Human Genetics | 19 | 19 | |
2004 | Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. | YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU | Human mutation | 33 | 0 | |
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 | |
2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
2013 | Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease | YIN-HSIU CHIEN ; DER-SHENG HAN ; WUH-LIANG HWU ; Thurberg B.L.; WEI-SHIUNG YANG | PLoS ONE | 15 | 14 | |
2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 130 | 111 | |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
2002 | Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study | Chu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 18 | 14 | |
2000 | Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host disease | YIN-HSIU CHIEN ; KAI-HSIN LIN ; Lee T.-Y.; MENG-YAO LU ; YONG-KWEI TSAU | Journal of the Formosan Medical Association | 28 | 24 | |
2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |