Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
2007 | Identification and management of cardiac perforation from a double lumen catheter in an infant [6] | CHING-CHIA WANG ; Chen Y.-W.; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ko W.-J.; SHU-CHIEN HUANG | Paediatric Anaesthesia | 3 | 2 | |
2009 | Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study | Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN ; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.; Melone M.A.B.; Scarano G.; Aldamiz-Echevarria L.; Besley G.; Walter J.; Martinez-Hernandez E.; Hernandez J.M.; Pierri C.L.; Palmieri F.; Santorelli F.M. | Human Mutation | 59 | 47 | |
2006 | Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiology | SHIANN-TANG JOU ; YIN-HSIU CHIEN ; YAO-HSU YANG ; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; BOR-LUEN CHIANG | International Journal of Immunogenetics | 43 | 41 | |
2022 | Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium | Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A; YIN-HSIU CHIEN ; Cortès-Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C; Wagenmakers, Margreet; Garbade, Sven F; Kölker, Stefan; Boy, Nikolas | Journal of inherited metabolic disease | 6 | 6 | |
2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
2015 | Incidence of severe combined immunodeficiency through newborn screening in a Chinese population | YIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU ; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 56 | 37 | |
2002 | An infant with heart murmur and dysmorphic face | YIN-HSIU CHIEN ; Kuo P.-L.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 1 | 0 | |
2022 | Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency | Yverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN ; Huemer M.; Ješina P.; Janssen M.C.H.; Kölker S.; Kožich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; E-HOD Consortium | Journal of Inherited Metabolic Disease | 7 | 5 | |
2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
2012 | Integrating human genome database into electronic health record with sequence alignment and compression mechanism | Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of Medical Systems | 6 | 5 | |
2019 | International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria | Muntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN ; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K. | Molecular Genetics and Metabolism | 41 | 31 | |
2005 | KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 | Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU | Molecular Vision | 21 | 17 | |
2012 | Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing | Kim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S. | Molecular Genetics and Metabolism | 28 | 24 | |
2023 | Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency | Hsu, Rai-Hseng; NI-CHUNG LEE ; HUI-AN CHEN ; WUH-LIANG HWU ; Chang, Tung-Ming; YIN-HSIU CHIEN | Orphanet journal of rare diseases | | | |
2011 | Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU | Journal of Pediatrics | 84 | 70 | |
2011 | Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy | CHUN-AN CHEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; JOU-KOU WANG ; Chen L.-R.; CHUN-WEI LU ; MING-TAI LIN ; SHUENN-NAN CHIU ; Chiu H.-H.; MEI-HWAN WU | Journal of Cardiac Failure | 27 | 24 | |
2020 | Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma | Weng, Hui-Ling; FENG-JUNG YANG ; YIN-HSIU CHIEN ; PEY-RONG CHEN ; Lin, Zi-Xuan; NI-CHUNG LEE ; WUH-LIANG HWU | Journal of nephrology | 0 | 0 | |
2022 | Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories | Gelb, Michael H; Basheeruddin, Khaja; Burlina, Alberto; Chen, Hsiao-Jan; YIN-HSIU CHIEN ; Dizikes, George; Dorley, Christine; Giugliani, Roberto; Hietala, Amy; Hong, Xinying; Kao, Shu-Min; Khaledi, Hamid; Klug, Tracy; Kubaski, Francyne; Liao, Hsuan-Chieh; Martin, Monica; Manning, Adrienne; Orsini, Joseph; Peng, Yin; Ranieri, Enzo; Rohrwasser, Andreas; Szabo-Fresnais, Nicolas; Turgeon, Coleman T; Vaz, Frédérick M; Wang, Li-Yun; Matern, Dietrich | International journal of neonatal screening | 11 | 8 | |
2003 | Living-related liver transplantation for methylmalonic acidemia: Report of one case | Hsui J.-Y.; YIN-HSIU CHIEN ; Chu S.-Y.; FRANK LEIGH LU ; HUEY-LING CHEN ; Ho M.-J.; PO-HUANG LEE ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 24 | 0 | |
2020 | Long-term effects of medical management on growth and weight in individuals with urea cycle disorders | Posset R.; Garbade S.F.; Gleich F.; Gropman A.L.; de Lonlay P.; Hoffmann G.F.; Garcia-Cazorla A.; Nagamani S.C.S.; Baumgartner M.R.; Schulze A.; Dobbelaere D.; Yudkoff M.; K?lker S.; Zielonka M.; Ah?Mew N.; Berry S.A.; McCandless S.E.; Coughlin C.; Enns G.; Gallagher R.C.; Burrage L.C.; Seminara J.; Harding C.O.; Burgard P.; Le?Mons C.; Merritt J.L.; II, Stricker T.; Bedoyan J.K.; Berry G.T.; Diaz G.A.; Wong D.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.D.; Burlina A.B.; Le?o?Teles E.; Pedr?n-Giner C.; Lund A.M.; Dionisi-Vici C.; Williams M.; M?tze U.; Karall D.; Blasco-Alonso J.; Couce M.L.; Sykut-Cegielska J.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Bari? I.; Schiff M.; YIN-HSIU CHIEN ; Lindner M.; Chabrol B.; Skouma A.; Zeman J.; Sokal E.; Santer R.; Eyskens F.; Freisinger P.; Pe?a-Quintana L.; Roland D.; Cort?s-Saladelafont E.; Djordjevic M.; Urea Cycle Disorders Consortium (UCDC), European registry; network for Intoxication type Metabolic Diseases (E-IMD) | Scientific Reports | 15 | 7 | |