| 臺大學術典藏 |
2022-03-28T02:45:58Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
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Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; Lee N.-C.; Lin C.-Y.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
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Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:56Z |
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
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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 |
| 臺大學術典藏 |
2022-03-28T02:45:55Z |
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
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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 |
| 臺大學術典藏 |
2022-03-28T02:45:54Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
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Chen C.-L.; Lee C.-N.; YIN-HSIU CHIEN; Hwu W.-L.; Chang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
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Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
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Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:52Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
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Tang Y.-C.; Tsui P.-H.; Wang C.-Y.; Weng H.-L.; YIN-HSIU CHIEN; Yang C.-Y.; Weng W.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:46Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
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Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-14T23:45:35Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
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Tang, Ya Chun; Tsui, Po Hsiang; Wang, Chiao Yin; Weng, Hui Ling; YIN-HSIU CHIEN; Yang, Chung Yi; WEN-CHIN WENG |
