公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2021 | Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial | Diaz-Manera J.; Kishnani P.S.; Kushlaf H.; Ladha S.; Mozaffar T.; Straub V.; Toscano A.; van der Ploeg A.T.; Berger K.I.; Clemens P.R.; YIN-HSIU CHIEN ; Day J.W.; Illarioshkin S.; Roberts M.; Attarian S.; Borges J.L.; Bouhour F.; Choi Y.C.; Erdem-Ozdamar S.; Goker-Alpan O.; Kostera-Pruszczyk A.; Haack K.A.; Hug C.; Huynh-Ba O.; Johnson J.; Thibault N.; Zhou T.; Dimachkie M.M.; Schoser B.; Behin A.; Boentert M.; Carvalho G.; Chahin N.; Charrow J.; Deegan P.; Durmus Tekce H.; Duval F.; Genge A.; Gutmann L.; Henderson R.D.; Hennermann J.B.; Hiwot T.; Hughes D.; Karaa A.; Karam C.; Kautzky-Willer A.; Komaki H.; Laforet P.; Longo N.; Malinova V.; Mar? R.; Maxit C.; Mengel E.; Moggio M.G.; Moln?r M.J.; Mongini T.E.; Nadaj-Pakleza A.; Nascimento Osorio A.; Noury J.-B.; Oliveira A.S.B.; Parman Y.; Pena L.; Remiche G.; Sciacco M.; Shieh P.B.; Smith C.; Stulnig T.; Taithe F.; Tard C.; Tarnopolsky M.; Vorgerd M.; Whitley C.; Young P.; Alonso-P?rez J.; Altemus P.; Aub?-Nathier A.-C.; Avelar J.B.; Bailey C.; Bekircan-Kurt C.E.; Billy J.; Boschi S.; Brown K.E.; Carrera Garcia L.; Chase L.; Cirne H.; Danjoux L.; Davion J.-B.; DeArmey S.; Fedotova E.; Gandolfo E.; Grosz Z.; Guellec D.; Guettsches A.-K.; Guglieri M.; Hatcher E.; Helms S.; Hufgard-Leitner M.; Klyushnikov S.A.; Langton J.; Linkov? L.; Mavroudakis N.; Mazurov? S.; Mori M.; M?ller-Miny L.; Musumeci O.; Nance C.S.; Natera-de Benito D.; Neel R.; Niizawa G.A.; Noll L.; Ortega E.; Pasnoor M.; Pautot V.; Potulska-Chromik A.; Pugliese A.; Questienne C.; Ramos Lopes M.; Reyes-Leiva D.; Riedl M.; Rugiero M.F.; Salort-Campana E.; Sgobbi Souza P.V.; Sole G.; Solera L.; Souto Lopes S.; Specht S.; Statland J.; Swenson A.; Tan C.Y.; Tizon S.; van der Beek N.A.M.E.; van Kooten H.A.; Wencel M.; Wenninger S.; Zagnoli F.; COMET Investigator Group | The Lancet Neurology | 57 | 39 | |
2021 | Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial | Schoser B.; Roberts M.; Byrne B.J.; Sitaraman S.; Jiang H.; Lafor?t P.; Toscano A.; Castelli J.; D?az-Manera J.; Goldman M.; van der Ploeg A.T.; Bratkovic D.; Kuchipudi S.; Mozaffar T.; Kishnani P.S.; Sebok A.; Pestronk A.; Dominovic-Kovacevic A.; Khan A.; Koritnik B.; Tard C.; Lindberg C.; Quinn C.; Eldridge C.; Bodkin C.; Reyes-Leiva D.; Hughes D.; Stefanescu E.; SALORT-CAMPANA E.; Butler E.; Bouhour F.; Kim G.; Konstantinos Papadimas G.; Parenti G.; Bartosik-Psujek H.; Kushlaf H.; Akihiro H.; Lau H.; Pedro H.; Andersen H.; Amartino H.; Shiraishi H.; Kobayashi H.; Tarnev I.; Vengoechea J.; Avelar J.; Shin J.-H.; Cauci J.; Alonso-P?rez J.; Janszky J.; Berthy J.; Cornelia K.; Gutschmidt K.; Claeys K.; Judit Molnar M.; Wencel M.; Tarnopolsky M.; Dimachkie M.; Tchan M.; Freimer M.; Longo N.; Vidal-Fernandez N.; Musumeci O.; Goker-Alpan O.; Deegan P.; Clemens P.R.; Roxburgh R.; Henderson R.; Hopkin R.; Sacconi S.; Fecarotta S.; Attarian S.; Wenninger S.; Dearmey S.; Hiwot T.; Burrow T.; Ruck T.; Sawada T.; Laszlo V.; L?scher W.; YIN-HSIU CHIEN ; PROPEL Study Group | The Lancet Neurology | 36 | 28 | |
2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | 5 | 5 | |
2009 | Schizencephaly in LEOPARD Syndrome | Liang J.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Yeh S.-J.; STEVEN SHINN-FORNG PENG | Pediatric Neurology | 4 | 4 | |
2008 | Screening for pompe disease and fabry disease | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Clinical Therapeutics | 1 | 1 | |
2002 | Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan | Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
2022 | Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | Tsai, Meng-Ju Melody; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; YI-CHING TUNG | Journal of the Formosan Medical Association = Taiwan yi zhi | 2 | 2 | |
2018 | SHOX deficiency in short Taiwanese children: A single-center experience | YI-CHING TUNG ; NI-CHUNG LEE ; WUH-LIANG HWU ; SHIH-YAO LIU ; CHENG-TING LEE ; YIN-HSIU CHIEN ; Tsai W.-Y. | Journal of the Formosan Medical Association | 2 | 2 | |
2011 | SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma | Chang K.-W.; HUEY-LING CHEN ; YIN-HSIU CHIEN ; Chen T.-C.; Yeh C.-T. | Molecular Genetics and Metabolism | 19 | 20 | |
2007 | Slipped capital femoral epiphysis as a complication of growth hormone therapy. | Wang S.-Y.; YI-CHING TUNG ; WEN-YU TSAI ; YIN-HSIU CHIEN ; Lee J.-S.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 10 | 7 | |
2016 | Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme | STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai F.-J.; Tsai W.-H.; YIN-HSIU CHIEN | Orphanet Journal of Rare Diseases | 17 | 19 | |
2023 | Sonographic evaluations of the skeletal muscles in patients with Pompe disease | YI-HSIANG CHIU ; Liao, Chun-Li; YIN-HSIU CHIEN ; CHUEH-HUNG WU ; Özçakar, Levent | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2 | 2 | |
2005 | Spectrum of hypermethioninemia in neonatal screening | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; WUH-LIANG HWU | Early Human Development | 34 | 26 | |
2010 | Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation | Chen P.W.; WUH-LIANG HWU ; MING-CHIH HO ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YEN-HSUAN NI ; PO-HUANG LEE | Pediatric Transplantation | 33 | 32 | |
2004 | A step-wise diagnosis of fragile X syndrome in Taiwan | Huang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
2021 | STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa | Gutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN ; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; WUH-LIANG HWU ; Toscano A.; Schoser B. | Journal of Neurology | 15 | 13 | |
2023 | Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency | Chen, Pin-Wen; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | Molecular genetics and metabolism | 1 | 0 | |
2020 | Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) | Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. | Orphanet Journal of Rare Diseases | 16 | 13 | |
2021 | A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan | Kuo, Yih-Chih; HSUEH-WEN HSUEH ; Hsueh, Sung-Ju; NI-CHUNG LEE ; MING-JU HSIEH ; CHI-CHAO CHAO ; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; Yang, Chih-Chao | Neuromuscular disorders : NMD | 3 | 3 | |
2006 | Tandem mass neonatal screening in Taiwan - Report from one center | HSIANG-PO HUANG ; Chu K.-L.; YIN-HSIU CHIEN ; Wei M.-L.; Wu S.-T.; Wang S.-F.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 33 | 25 | |