logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
delete
arrow
返回
U

Ultragenyx Pharmaceutical Inc.

学者数227
论文数126
被引数3
关联论文 (125)
发表时间
delete
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIaDTX401 AAV基因疗法治疗GSDIa的III期随机试验结果
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-06
err0
errOAAI
errJohn J. Mitchell; Jose E. Abdenur; Foekje de Boer; Monica Boyer; Margo Sheck Breilyn; María-Luz Couce; Diva D. De Leon; Terry G. Derks; Areeg El-Gharbawy; Andrea B. Haijer-Schreuder; Karen Loechner; Nicola Longo; Allan M. Lund; Miguel Angel Martinez Olmos; Shawn E. McCandless; Bibiana Mello de Oliveira; Malaya Mount; Nicole Muschol; Kristina Pytlak; Kadakkal Radhakrishnan; Rebecca Riba-Wolman; David F. Rodriguez-Buritica; Alessandro La Rosa; Alessandro Rossi; Heather Saavedra; René Santer; Brian Shayota; G. Peter A. Smit; Carolina F. Moura De Souza; Melanie M. van der Klauw; David A. Weinstein; Joseph I. Wolfsdorf; Anne Blake; Andrew A. Grimm; Deepali Mitragotri; Syeda Rahman; Diane M. Turner-Bowker; Richard Collis
err分享
err收藏
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes长链脂肪酸氧化障碍基因：LC-FAOD变异体、基因型和表型的综合性遗传数据库
errHuman Mutation
IF3.7
err2026-07-07
err0
errOAAI
errHeather Richbourg; Vanessa Rangel Miller; Omid Khazaie Japalaghi; Moeenaldeen AlSayed; Peter R. Baker; Sean Daugherty; Tali Ekstein; Sarah C. Grünert; Mark J. Kiel; Aneal Khan; Hironori Kobayashi; Lawrence Korngut; Stephanie A. Monteleone; Ida Vanessa D. Schwartz; Nicole Miller; Jerry Vockley
err分享
err收藏
A mechanistic model for recombinant adeno-associated virus production dynamics in a helper virus-assisted producer cell line重组腺相关病毒在辅助病毒辅助的生产细胞系中的生产动力学机制模型
errBiotechnology Progress
IF2.5
err2026-06-04
err0
PREAI
errSha Sha; Patrick Hossler; Alexander Abrahamyan; James Warren
err分享
err收藏
Current clinical practice in nutritional management of long-chain fatty acid oxidation disorders长链脂肪酸氧化障碍的营养管理当前临床实践
errMolecular Genetics and Metabolism
IF3.5
err2026-04-21
err0
PREAI
errA. Thompson; B. Reineking
err分享
err收藏
Global patient advocacy and health outcomes perspectives on the impacts of managing glycogen storage disease type Ia (GSDIa)全球患者倡导和健康结局视角下对管理糖原贮积症Ia型（GSDIa）的影响
errMolecular Genetics and Metabolism
IF3.5
err2026-04-21
err0
PREAI
errA. Blake; V. Buxton; M.L. Caiaffa; L. Hodes; K. Ward; M.K. Sidhu; K. Voorhees
err分享
err收藏
Nutritional monitoring and management post-DTX401 treatment: Initial observations from a phase 3 clinical trial for glycogen storage disease type IaDTX401治疗后营养监测与管理：Ia型糖原贮积症3期临床试验的初步观察
errMolecular Genetics and Metabolism
IF3.5
err2026-04-21
err0
PREAI
errA. Blake; M. Boyer; J.J. Mitchell; M. Mount; K. Pytlak; H. Saavedra; G.P.A. Smit; C.F. Moura de Souza; D.A. Weinstein; J.I. Wolfsdorf; E. Dorn; A.A. Grimm; Serap Sankoh; Richard Collis
err分享
err收藏
The evolving role and impact of patients and caregivers in scientific publications患者和照护者在科学出版物中演变的角色和影响
errCurrent Medical Research and Opinion
IF2.2
err2026-04-20
err0
PREAI
errThompson, Amanda; Breedlove, Lindsay; Gupta, Rupal N.; Hebard-Massey, Kerri
err分享
err收藏
Baseline characteristics and response to evinacumab in females and males with homozygous familial hypercholesterolemia in the ELIPSE OLE study
errAmerican Journal of Preventive Cardiology
IF5.9
err2026-01-19
err0
errOAAI
errDiane Brisson; Albert Wiegman; Alpana Waldron; Pinay Kainth; Frederick J Raal; Daniel Gaudet
err分享
err收藏
Development and Preliminary Psychometric Evaluation of the Glycogen Storage Disease Type Ia Functional Assessment Diary (GSD FAD)I型糖原贮积症功能性评估日记（GSD FAD）的开发与初步心理测量评估
errPatient Preference and Adherence
IF2
err2026-01-01
err0
PREAI
errTurner-Bowker, Diane M.; Egan, Shayna; Butler, Jessica; Jewett, Adrian; Mitragotri, Deepali; Foster, Brandon; Skrinar, Alison; Theodore-Oklota, Christina
err分享
err收藏
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational StudyX连锁肌酸转运蛋白缺乏症男性患者的纵向特征分析：多年观察研究的最终结果
errPediatric Neurology
IF2.1
err2025-11-01
err0
errOAAI
errMiller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
err分享
err收藏
Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD)
errJOURNAL OF PATIENT-REPORTED OUTCOMES
IF2.9
err2025-10-22
err0
errOAAI
errTheodore-Oklota, Christina; O'Mara, Ashley; Butler, Jessica; Egan, Shayna; Hribal, Elizabeth; Evans, Christopher
err分享
err收藏
In Vitro and in Vivo Relationship of Subcutaneous Absorption of Therapeutic Proteins
errCurrent Pharmacology Reports
IF2.2
err2025-10-21
err0
PREAI
errZou, Peng
err分享
err收藏
Real-world effectiveness of burosumab vs oral phosphate and active vitamin D in adults with X-linked hypophosphatemia成人X-连锁低磷酸盐血症患者中，布罗索尤单抗相对于口服磷酸盐和活性维生素D的真实世界有效性
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2025-06-01
err0
errOAAI
errFlorenzano, Pablo; Imel, Erik A.; Khan, Aliya A.; Li, Zhiyi; Vincent, Marc; Nomura, Takanobu; Krolczyk, Stanley; Johnson, Ben; Ward, Leanne
err分享
err收藏
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)DTX401的安全性和有效性评估，该疗法为AAV8介导的肝脏靶向基因治疗，用于治疗成人1型a型糖原贮积症（GSDIa）。
errJOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
err2025-03-10
err1
errOAAI
errWeinstein, David A.; Derks, Terry G.; Rodriguez-Buritica, David F.; Ahmad, Ayesha; Couce, Maria-Luz; Mitchell, John J.; Riba-Wolman, Rebecca; Mount, Malaya; Sallago, Julieta Bonvin; Ross, Katalin M.; van Der Klauw, Melanie M.; de Boer, Foekje; van Der Schaaf, Caroline; Saavedra, Heather; Martinez-Olmos, Miguel; Atanga, Elvis; Hosseini, Asad; Mitragotri, Deepali; Crombez, Eric
err分享
err收藏
Ensuring patient access to gene therapies for rare diseases: Navigating reimbursement and coverage challenges确保罕见病患者获得基因疗法：应对报销和覆盖挑战
errMOLECULAR THERAPY METHODS & CLINICAL DEVELOPMENT
IF4.7
err2025-03-01
err0
errOAAI
errBerry, Diane; Hickey, Carolyn; Kahlman, Lisa; Long, James; Markus, Christina; Mccombs, Caitlin K.
err分享
err收藏
Comparison of Model-Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial Hypercholesterolemia
errCPT-PHARMACOMETRICS & SYSTEMS PHARMACOLOGY
IF3
err2025-03-01
err0
errOAAI
errBihorel, Sebastien; Dingman, Robert; Mendell, Jeanne; Norman, Katy C.; George, Richard T.; Zhao, Xue-Qiao; Pordy, Robert; Garcia, Daniel; Putnam, Wendy S.; Raghuveer, Geetha; Mccrindle, Brian W.; Fornari, Elena; Baric, Ivo; Srinivasan, Shubha; Diamond, Melissa; Brinton, Eliot A.; Davis, John D.; Dicioccio, A. Thomas; Harnisch, Lutz
err分享
err收藏
Comprehensive extractables and leachables sensitization analysis and practical application of a risk-based approach to sensitization assessment for parenteral drug products全面的可提取物和可浸出物敏化分析和基于风险的方法在肠胃外药物产品敏化评估中的实际应用
errREGULATORY TOXICOLOGY AND PHARMACOLOGY
IF3.5
err2025-03-01
err0
PREAI
errParris, Patricia; Whelanb, Geraldine; Chilton, Martyn L.; Beaumonth, Claire; Burild, Anders; Bruen, Uma; Callis, Courtney; Graham, Jessica; Kovalovai, Natalia; Martin, Elizabeth A.; Masuda-Herrera, Melisa; Worsoek, Carsten; Alamil, Anissa; Bercuj, Joel; Doronm, Dvir; Dusenbury, Kristen; Fu, Qiang; Griffin, Troy; Hillegass, Jedd; Johann, Esther; Koenig, Agnes; Macho, Nina; Martirosyan, Alina; Oded, Kobi; Guarch, Constanca Porredon; Schmitz, Matthew; Stanard, Brad; Tien, Eric; Udovic, Erika; Xu, Haiyan; Cruz, Maureen T.; Nagao, Lee
err分享
err收藏
Treatment with UX111 gene therapy rapidly reduced heparansulfate (HS) exposure in cerebrospinalfluid (CSF) and improvedlong-term cognitive function in children withmucopolysaccharidosis type IIIA (MPS IIIA)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errLau, Heather A.; Patra, Kaushik; Wolf, Melissa; Smith, Nicholas J. C.; Couce, Maria L.; Rajan, Deepa; Truxal, Kristen; Castro Lopez, Maria Jose De; Fuller, Maria; Monteagudo-Vilavedra, Eines; Dunia Dougherty-De Miguel, Lucia; Riera, Mireia Del Toro; Flanigan, Kevin M.
err分享
err收藏
Mucopolysaccharidosis type VII (MPS VII): A novel, online GUSB gene variant database
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errDaugherty, Sean; Hamazaki, Takashi; Hegde, Madhuri; Giuglian, Roberto; Mackenzie, Tippi C.; Dilwortha, Lisa; Kielf, Mark J.; Japalaghi, Omid Khazaie; Lianoglou, Billie R.; Marsden, Deborah; Merritt, Lawrence; Nalin, Tatiele; Pansare, Vikram; Pollard, Laura; Miller, Vanessa Rangel; Richbourg, Heather; Sparks, Teresa N.; Miller, Nicole
err分享
err收藏
Probing the interaction mechanisms of lipid nanoparticle-encapsulated mRNA with surfaces of diverse functional groups: Implication for mRNA transport
errCHEMICAL ENGINEERING SCIENCE
IF4.3
err2025-01-01
err1
errOAAI
errWang, Jingyi; Zhang, Jiawen; Li, Sijia; Qian, Hui; Liu, Dengfeng; Prado, Isaias; Wang, Sharon; Bhambhani, Akhilesh; Zeng, Hongbo
err分享
err收藏