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Priya S. Kishnani

sumandeep vidyapeeth

75H指数
760论文数
2.3W被引数
收录论文 406
发表时间
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Comparison of Two Different Doses of Intrathecal Clonidine as Adjuvant to Hyperbaric Levobupivacaine for Spinal Anaesthesia in Femur Fracture Surgeries: A Randomised Triple-blind Clinical Study比较两种不同剂量鞘内可乐定作为重比重左布比卡因辅助剂用于股骨骨折手术蛛网膜下腔麻醉的随机三盲临床研究
errJournal of Clinical and Diagnostic Research
IF0.2
err2026-02-01
err0
PREAI
errPatel, Jatin; Jain, Radhika; Kishnani, Priya; Shah, Charmi
err分享
err收藏
Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease血浆胶质纤维酸性蛋白（GFAP）是婴儿型发作的庞贝病中枢神经系统受累的生物标志物。
erreBioMedicine
IF10.8
err2026-01-02
err0
errOAAI
errNeha Regmi; Bijan Abar; Jeong-A Lim; Daniel Kenney-Jung; Michael Malinzak; Kristen A. Hagarty-Waite; Karra A. Jones; Seung-Hye Jung; Ashlee R. Stiles; Rebecca L. Koch; Priya S. Kishnani
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Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease IV系统性疾病进展与神经退行性变在Glycogen Storage Disease IV的Gbe1ys/ys小鼠模型中
errThe American Journal of Pathology
IF0
err2025-12-15
err0
PREAI
errSu Jin Choi; Rebecca L. Koch; Rebecca A. Gibson; Fiona E. Weaver; Yadav Adhikari; William Eisner; Aarav Mehta; William R. Jeck; Jeong-A Lim; Priya S. Kishnani
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Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation预测糖原贮积症IV型的亚型：肝源性亚型的挑战及基因型-表型相关性
errMolecular Genetics and Metabolism
IF3.5
err2025-11-24
err0
PREAI
errAnne Taylor; Desale Yacob; Bonita Fung; Shamlal Mangray; Daniel R. Boué; Kevin M. Flanigan; Rebecca L. Koch; Priya S. Kishnani; Deeksha Bali; Alexander Weymann; Mari Mori
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Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease转氨酶升高：是否总是需要肝活检？——来自Pompe病的经验教训
errJIMD Reports
IF1.8
err2025-11-24
err0
errOAAI
errKhazzeka, Alicia; Koch, Rebecca L.; Lim, Jeong-a.; Ward, Jeremy D.; Doxey, Jessica; Jeck, William R.; Kishnani, Priya S.
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Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2肝脏靶向的AAV基因疗法在老鼠中纠正了糖原贮积症类型IX γ2
errScience Advances
IF12.5
err2025-11-12
err0
PREAI
errRebecca A. Gibson; William R. Jeck; Rebecca L. Koch; Neha Jumani; Su Jin Choi; Deeksha Bali; Sarah P. Young; Aravind Asokan; Jeong-A Lim; Priya S. Kishnani
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PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgiaPHKA1相关的磷酸化酶激酶缺乏症：一种与运动不耐受和肌痛相关的单基因疾病
errnpj Genomic Medicine
IF4.8
err2025-11-10
err0
errOAAI
errRebecca L. Koch; Angie H. Fares; Benjamin T. Cocanougher; Jamie Lim; Andrea B. Haijer-Schreuder; Terry G. J. Derks; Sarah C. Grünert; Reena Sharma; Karra A. Jones; Priya S. Kishnani
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The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool唐氏综合征关节炎的临床检测：一项关于唐氏综合征特异性肌肉骨骼筛查工具的多中心、国际性试点与可行性研究
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err0
PREAI
errJones, Jordan T.; Talib, Nasreen; Cramer, Emily; Valentini, Diletta; Baumer, Nicole; Sargado, Sabrina; Oreskovic, Nicolas M.; Santoro, Stephanie L.; Krell, Kavita; Santoro, Jonathan D.; Vellody, Kishore; Mccormick, Andrew; Franklin, Catherine; Kishnani, Priya; Hart, Sarah; Spiridigliozzi, Gail; Kitchen, Jacqueline; Skotko, Brian G.
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Revisiting the Genetics of Hypophosphatasia重新审视低磷酸酯酶症的遗传学
errJournal of Inherited Metabolic Disease
IF3.8
err2025-10-05
err0
errOAAI
errPriya S. Kishnani; Catherine Rehder; Keiichi Ozono; Jordi Pérez-López; Guillermo del Angel; William R. Mowrey; Meena Balasubramanian; Wolfgang Högler; Eric T. Rush
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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants低磷酸酯酶症患者携带ALPL变异体的生化表型
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2025-10-01
err0
errOAAI
errMontero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang
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Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience.婴儿期起病的庞贝病进入成年期：二十余年酶替代治疗经验的见解。
errGenetics in Medicine
IF6.2
err2025-09-23
err0
PREAI
errNeha Regmi; Daniel Kenney-Jung; Grace Stafford; Michael Malinzak; Gail A. Spiridigliozzi; Tracy Boggs; Rebecca L. Koch; Phillip Brian Smith; Laura E. Case; Sarah P. Young; Harrison N. Jones; Priya S. Kishnani
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Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease定量肌肉超声作为观察婴儿型糖原贮积病I型疾病进展的窗口
errMolecular Genetics and Metabolism
IF3.5
err2025-09-18
err0
PREAI
errNeelam Makhijani; Myriam Boueri; Bijan Abar; Tracy Boggs; Laura E. Case; Natalia L. Gonzalez; Lisa D. Hobson-Webb; Sarah P. Young; Priya S. Kishnani
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Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trialavalglucosidase alfa在COMET试验中治疗晚期发作型庞贝病145周后的疗效与安全性
errJournal of Neurology
IF4.6
err2025-08-16
err0
errOAAI
errPriya S. Kishnani; Jordi Díaz-Manera; Sergey Illarioshkin; Ans T. van der Ploeg; Paula R. Clemens; John W. Day; Antonio Toscano; Hani Kushlaf; Shafeeq Ladha; Shahram Attarian; Gerson Carvalho; Anna Kostera-Pruszczyk; Sevim Erdem-Özdamar; Ozlem Goker-Alpan; Tahseen Mozaffar; Volker Straub; Mark Roberts; Kristina An Haack; Olivier Huynh-Ba; Swathi Tammireddy; Magali Periquet; Nathan Thibault; Tianyue Zhou; Mazen M. Dimachkie; Benedikt Schoser
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Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights from Parental Perspectives应对晚发型庞贝病新生儿筛查的情感与实践挑战：来自家长视角的见解
errPediatric Neurology
IF2.1
err2025-08-12
err0
PREAI
errMyriam Boueri; Allison Paltzer; Erin Huggins; Ellen Linebaugh; Debera Zvejnieks; Jessica Doxey; Gail Spiridigliozzi; Seung-Hye Jung; Priya S. Kishnani
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In memoriam: Stephen G. Kahler, MD纪念：Stephen G. Kahler, MD
errMolecular Genetics and Metabolism
IF3.5
err2025-08-05
err0
PREAI
errJohan L.K. Van Hove; Priya S. Kishnani; David S. Millington; Dietrich Matern; Ayesha Ahmad
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Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry更正：使用α-葡糖苷酶治疗晚发型庞贝病患者13年内用力肺活量的变化：庞贝病登记注册真实世界数据的新建模
errJournal of Neurology
IF4.6
err2025-07-31
err0
errOAAI
errKenneth I. Berger; Yin-Hsiu Chien; Alberto Dubrovsky; Priya S. Kishnani; Juan C. Llerena; Edward Neilan; Mark Roberts; Bun Sheng; Julie L. Batista; Magali Periquet; Kathryn M. Wilson; Ans T. van der Ploeg
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The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaMini-COMET临床研究：Avalglucosidase Alfa在先前接受Alglucosidase Alfa治疗的婴儿型糖原贮积症I型患儿中97周治疗的安全性与有效性
errThe Journal of Pediatrics
IF0
err2025-05-29
err0
PREAI
errDavid Kronn; James Davison; Alexander Broomfield; Anaïs Brassier; François Labarthe; Si Houn Hahn; Satoko Kumada; Hirotaka Ohki; Sasapin Grace Prakalapakorn; Catherine Wilson; Kristina An Haack; Olivier Huynh-ba; Susan Richards; Susan Sparks; Swathi Tammireddy; Tianyue Zhou; Yin-Hsiu Chien; Priya S. Kishnani;
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Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL将晚期庞贝病糖苷酶替代疗法从阿糖苷酶alfa切换为西帕糖苷酶alfa联合米格鲁斯坦：PROPEL研究的后效分析
errMUSCLE & NERVE
IF3.1
err2025-05-07
err0
errOAAI
errHani Kushlaf; Jordi Díaz-Manera; Drago Bratkovic; Barry J. Byrne; Kristl G. Claeys; Paula R. Clemens; Mazen M. Dimachkie; Priya S. Kishnani; Pascal Laforêt; Mark Roberts; Benedikt Schoser; Antonio Toscano; Jeff Castelli; Fred Holdbrook; Sheela Sitaraman Das; Mitchell Goldman; Tahseen Mozaffar; the PROPEL Study Group
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Challenges in Gaucher disease: Perspectives from an expert panel
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errGrabowski, Gregory A.; Kishnani, Priya S.; Alcalay, Roy N.; Prakalapakorn, S. Grace; Rosenbloom, Barry E.; Tuason, Dominick A.; Weinreb, Neal J.
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Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errSpiridigliozzi, Gail A.; Regmi, Neha; Zimmerman, Kanecia; Stefanescu, Mihaela; Jung, Seung-Hye; Kishnani, Priya S.
err分享
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研究方向

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合作学者
合作期刊
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Rohit Loomba
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Mark A. Tarnopolsky
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W
Wendy K. Chung
H 指数: 127 · 论文数: 1.3K
M
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