公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2020 | Development of newborn screening for pompe disease | WUH-LIANG HWU ; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 0 | 0 | |
2010 | Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening | NI-CHUNG LEE ; Tang N.L.-S.; YIN-HSIU CHIEN ; CHUN-AN CHEN ; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 84 | 64 | |
2013 | Diagnosing mucopolysaccharidosis IVA | Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN ; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J. | Journal of Inherited Metabolic Disease | 73 | 71 | |
2014 | Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots | Chen P.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU | Clinica Chimica Acta | 29 | 27 | |
2012 | Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system | Chen S.-T.; Su Y.-N.; YEN-HSUAN NI ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chang C.-C.; HUEY-LING CHEN ; MEI-HWEI CHANG | Journal of Pediatrics | 15 | 12 | |
2023 | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | Chen, Pin-Shiuan; CHI-CHAO CHAO ; LI-KAI TSAI ; Huang, Hsin-Yi; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; NI-CHUNG LEE ; HSUEH-WEN HSUEH ; Chih-Chao Yang | Journal of neuromuscular diseases | 1 | 1 | |
2020 | Dietary intake and nutritional status of patients with phenylketonuria in Taiwan | Weng, Hui-Ling; FENG-JUNG YANG ; PEY-RONG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Scientific reports | 4 | 3 | |
2010 | Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy | Raben N.; Ralston E.; YIN-HSIU CHIEN ; Baum R.; Schreiner C.; WUH-LIANG HWU ; Zaal K.J.M.; Plotz P.H. | Molecular Genetics and Metabolism | 62 | 57 | |
2004 | Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment | STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU | American Journal of Neuroradiology | 26 | 22 | |
2002 | DiGeorge sequence with hypogammaglobulinemia: A case report | YIN-HSIU CHIEN ; YAO-HSU YANG ; Chu S.-Y.; WUH-LIANG HWU ; Kuo P.-L.; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 6 | 0 | |
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 | |
2004 | Distal Arthrogryposis in Two Sisters Born to Different Fathers [4] | WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.-C. | American Journal of Medical Genetics | 4 | 4 | |
2011 | Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010 | Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; YIN-HSIU CHIEN ; BOR-LUEN CHIANG ; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; HSIN-HUI YU ; YAO-HSU YANG ; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU ; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. | Immunobiology | 45 | 38 | |
2020 | Diversity in heritable disorders of connective tissue at a single center | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Connective Tissue Research | 4 | 2 | |
2022 | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | HSUEH-WEN HSUEH ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; FENG-JUNG YANG ; WANG-TSO LEE ; Lin, Ru-Jen; WUH-LIANG HWU ; Chih-Chao Yang ; NI-CHUNG LEE | Journal of the Formosan Medical Association = Taiwan yi zhi | 1 | 1 | |
2021 | DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms | Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU ; FEI-PEI LAI ; YIN-HSIU CHIEN ; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA | Australian Journal of Forensic Sciences | 4 | 4 | |
2022 | Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; WEN-CHIN WENG ; Chen L.-C.; Huang Y.-H.; Wu C.-S.; WUH-LIANG HWU | Neurological Sciences | 14 | 10 | |
2012 | Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: Systematic literature review and evidence from studies with miglustat | Walterfang M.; YIN-HSIU CHIEN ; Imrie J.; Rushton D.; Schubiger D.; Patterson M.C. | Orphanet Journal of Rare Diseases | 57 | 51 | |
2020 | Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences | YIN-HSIU CHIEN ; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 28 | 26 | |
2008 | Early detection of glutaric aciduria type I by newborn screening in Taiwan | Hsieh C.-T.; WUH-LIANG HWU ; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN | Journal of the Formosan Medical Association | 24 | 16 | |