| 臺大學術典藏 |
2022-03-28T02:45:46Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
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 |
2022-03-28T02:45:52Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
|
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 |
2022-03-28T02:45:53Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
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
|
Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:54Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; YIN-HSIU CHIEN; Hwu W.-L.; Chang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:55Z |
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 |
| 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
|
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 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
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 |
2022-03-28T02:45:58Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
|
Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN; Wang Y.-T.; Hwu W.-L.; Lee N.-C. |
| 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
|
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 |
2022-03-28T02:45:59Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
|
Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R. |
| 臺大學術典藏 |
2022-03-28T02:45:59Z |
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
|
Chan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J. |
| 臺大學術典藏 |
2022-03-28T02:46:00Z |
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.; Hwu P.W.-L.; Toscano A.; Schoser B. |
| 臺大學術典藏 |
2022-03-28T02:46:00Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; YIN-HSIU CHIEN; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:46:01Z |
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
|
Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium |
| 臺大學術典藏 |
2022-03-28T02:46:02Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; Yang Y.-H.; YIN-HSIU CHIEN; Lee N.-C.; Yu H.-H.; Chiang B.-L.; Wang L.-C. |
| 臺大學術典藏 |
2022-03-28T02:46:02Z |
DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms
|
Yang T.-W.; Li Y.-H.; Chou C.-F.; Lai F.-P.; YIN-HSIU CHIEN; Yin H.-I.; Lee T.-T.; Hwa H.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:03Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:04Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Chen C.-A.; Tang N.L.S.; YIN-HSIU CHIEN; Zhang W.-M.; Wang J.-K.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T03:06:46Z |
Prognostic Value of Interim 18F-DOPA and 18F-FDG PET/CT Findings in Stage 3-4 Pediatric Neuroblastoma
|
Ko, Kuan-Yin; Yen, Ruoh-Fang; Ko, Chi-Lun; Chou, Shu-Wei; Chang, Hsiu-Hao; Yang, Yung-Li; Jou, Shiann-Tarng; Hsu, Wen-Ming; MENG-YAO LU |
| 臺大學術典藏 |
2022-03-28T03:26:38Z |
Characteristics and outcomes of second cancers in patients with childhood cancer: A report from the Taiwan Pediatric Oncology Group
|
Ho, Wan-Ling; Hung, Giun-Yi; Yen, Hsiu-Ju; Yang, Yung-Li; Chang, Hsiu-Hao; MENG-YAO LU; Lin, Kai-Hsin; Chen, Jiann-Shiuh; Cheng, Chao-Neng; Hung, Iou-Jih; Yang, Chao-Ping; Chen, Shih-Hsiang; Liu, Hsi-Che; Yeh, Ting-Chi; Hou, Jen-Yin; Hsiao, Chih-Cheng; Sheen, Jiunn-Ming; Chang, Tai-Tsung; Wong, Tai-Tong; Miser, James S; Liu, Yen-Lin; Chen, Rong-Long; Chen, Bow-Wen; Peng, Ching-Tien; Chang, Te-Kau; Wu, Kang-Hsi; Chang, Yu-Hsiang; Wang, Jinn-Li; Wang, Shih-Chung; Lin, Ming-Tsan; Hu, Fu-Chang; Jou, Shiann-Tarng; Lin, Dong-Tsamn |
| 臺大學術典藏 |
2022-03-28T03:28:01Z |
Philadelphia chromosome-negative B-cell acute lymphoblastic leukaemia with kinase fusions in Taiwan
|
Hsu, Yin-Chen; Yu, Chih-Hsiang; Chen, Yan-Ming; Roberts, Kathryn G; Ni, Yu-Ling; Lin, Kai-Hsin; Jou, Shiann-Tarng; MENG-YAO LU; Chen, Shu-Huey; Wu, Kang-Hsi; Chang, Hsiu-Hao; Lin, Dong-Tsamn; Lin, Shu-Wha; Lin, Ze-Shiang; Chiu, Wei-Tzu; Chang, Chia-Ching; Ho, Bing-Ching; Mullighan, Charles G; Yu, Sung-Liang; Yang, Yung-Li |
| 臺大學術典藏 |
2022-03-28T03:28:55Z |
Relationship between transfusion burden, healthcare resource utilization, and complications in patients with beta-thalassemia in Taiwan: A real-world analysis
|
Tang, Chao-Hsiun; Furnback, Wesley; Wang, Bruce C M; Tang, Jackson; Tang, Derek; MENG-YAO LU; Huang, Vicky W-H; Musallam, Khaled M |
| 臺大學術典藏 |
2022-03-28T03:30:03Z |
Acute pancreatitis in children with acute lymphoblastic leukemia correlates with L-asparaginase dose intensity
|
Chen, Chi-Bo; Chang, Hsiu-Hao; Chou, Shu-Wei; Yang, Yung-Li; MENG-YAO LU; Jou, Shiann-Tarng; Chen, Huey-Ling; Ni, Yen-Hsuan; Lin, Dong-Tsamn; Chang, Mei-Hwei; Wu, Jia-Feng |
| 臺大學術典藏 |
2022-03-28T05:25:25Z |
C1GALT1 expression predicts a favorable prognosis and suppresses malignant phenotypes via TrkA signaling in neuroblastoma
|
Lin N.-Y.; Chen S.-T.; Chang H.-L.; Lu M.-Y.; Yang Y.-L.; Chou S.-W.; Lin D.-T.; Lin K.-H.; Jou S.-T.; Hsu W.-M.; Huang M.-C.; HSIU-HAO CHANG |
