公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2002 | Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant | YIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 15 | 14 | |
2014 | Parental discussion of G6PD deficiency and child health: Implications for clinical practice | Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Archives of Disease in Childhood | 1 | 1 | |
2004 | Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case | WUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y. | Acta Paediatrica Taiwanica | 3 | 0 | |
2018 | Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease | Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 15 | 0 | |
2003 | Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese | Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lin S.-J.; FRANK LEIGH LU ; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 2 | 1 | |
2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN | Movement disorders : official journal of the Movement Disorder Society | 2 | 0 | |
2004 | Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 4 | 0 | |
2023 | A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7 | Lee, Chee-Seng; YEN-HSUAN NI ; HUEY-LING CHEN ; JIA-FENG WU ; HONG-YUAN HSU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; TING-AN YEN ; Chua, Huey-Huey; Chen, Yu-Ju; Wang, Yu-Lin; MEI-HWEI CHANG | Journal of pediatric gastroenterology and nutrition | 6 | 3 | |
2021 | A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease | Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN | Scientific Reports | 1 | 1 | |
2005 | Plasma chitotriosidase activity and malaria (multiple letters) | YIN-HSIU CHIEN ; JEN-HAU CHEN ; WUH-LIANG HWU ; Musumeci S. | Clinica Chimica Acta | 15 | 18 | |
2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 129 | 107 | |
2004 | Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan | YIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU ; WANG-TSO LEE ; WUH-LIANG HWU | Journal of Child Neurology | 37 | 30 | |
2023 | Precocious puberty in patients with Pompe disease | Tsai, Meng-Ju Melody; Chen, Mei-Huei; YIN-HSIU CHIEN ; YI-CHING TUNG | Frontiers in endocrinology | 0 | 0 | |
2022 | Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency | Scharre, Svenja; Posset, Roland; Garbade, Sven F; Gleich, Florian; Seidl, Marie J; Druck, Ann-Catrin; Okun, Jürgen G; Gropman, Andrea L; Nagamani, Sandesh C S; Hoffmann, Georg F; Kölker, Stefan; Zielonka, Matthias; YIN-HSIU CHIEN | Annals of clinical and translational neurology | 5 | 2 | |
2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Pediatrics | 114 | 91 | |
2019 | Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese | Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; NI-CHUNG LEE ; Fung C.-W.; Chung B.H.-Y. | npj Genomic Medicine | 27 | 23 | |
2023 | The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants | Chen, Cheng-Yu; MEI-HWEI CHANG ; HUEY-LING CHEN ; YIN-HSIU CHIEN ; JIA-FENG WU | Pediatric research | 2 | 0 | |
2014 | Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Muscle and Nerve | 6 | 6 | |
2013 | Promising outcomes in glutaric aciduria type i patients detected by newborn screening | Lee C.-S.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Metabolic Brain Disease | 34 | 26 | |