文献库，生知库 | 链接生命科学的每一步

日期影响因子

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy

临床试验访谈旨在探索糖原贮积症 Ia 型患者接受基因治疗后的体验

期刊:Journal of Health Economics and Outcomes Research

影响因子:2.3

doi:10.36469/001c.155666

Turner-Bowker, Diane M; Butler, Jessica; Egan, Shayna; Weinstein, David A; Rodriguez-Buritica, David F; Ahmad, Ayesha; Couce, María-Luz; Riba-Wolman, Rebecca; Mitchell, John J; Theodore-Oklota, Christina

发表日期：2026

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Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)

DTX401（一种AAV8介导的肝脏靶向基因疗法）在I型糖原贮积症（GSDIa）成人患者中的安全性和有效性

期刊:Journal of Inherited Metabolic Disease

影响因子:3.8

doi:10.1002/jimd.70014

Weinstein, David A; Derks, Terry G; Rodriguez-Buritica, David F; Ahmad, Ayesha; Couce, María-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; Martínez-Olmos, Miguel; Atanga, Elvis; Hosseini, Asad; Mitragotri, Deepali; Crombez, Eric

发表日期：2025

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Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack

特发性病理性酮症性低血糖症：大海捞针

期刊:Hormone Research in Paediatrics

影响因子:2.7

doi:10.1159/000538483

Wolfsdorf, Joseph I; Derks, Terry G J; Drachmann, Danielle; Shah, Pratik; Thornton, Paul S; Weinstein, David A

发表日期：2025

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Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose

口服D-[6,6-2H2]-葡萄糖法估算Ia型糖原贮积症患者的内源性葡萄糖生成

期刊:Journal of Clinical Endocrinology & Metabolism

影响因子:5.1

doi:10.1210/clinem/dgad537

Rossi, Alessandro; Oosterveer, Maaike H; van Dijk, Theo H; Bleeker, Aycha; Koehorst, Martijn; Weinstein, David A; Bakker, Barbara M; Derks, Terry G J

发表日期：2024

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Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum Î²-galactosidase activity in patients with GM1-gangliosidosis.

验证高灵敏度检测方法在GM1神经节苷脂病患者脑脊液和血清β-半乳糖苷酶活性定量中的应用

期刊:Molecular Therapy-Methods & Clinical Development

影响因子:4.7

doi:10.1016/j.omtm.2024.101318

Quadrini Karen J, Vrentas Catherine, Duke Christian, Wilson Chris, Hinderer Christian J, Weinstein David A, Al-Zaidy Samiah A, Browne Susan E, Wilson James M, Ni Yan G

发表日期：2024

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Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video

利用专家对家庭视频的审查，为具有外部对照的单臂试验生成盲法证据的策略

doi:10.1007/s43441-023-00568-4

Zhang, Xinruo; Brind'Amour, Katherine; King, Kelly E; Hartmaier, Susan; Harris, Katherine; Weinstein, David A; Girman, Cynthia J

发表日期：2023

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RISK MITIGATION BEHAVIORS TO PREVENT INFECTION IN THE MITOCHONDRIAL DISEASE COMMUNITY DURING THE COVID19 PANDEMIC

在新冠肺炎疫情期间，线粒体疾病患者群体应采取风险缓解行为以预防感染

期刊:Molecular Genetics and Metabolism

影响因子:3.5

doi:10.1016/j.ymgme.2019.07.011

Vockley, Jerry; Dobrowolski, Steven F; Arnold, Georgianne L; Guerrero, Ruben Bonilla; Derks, Terry G J; Weinstein, David A; Thompson, Elizabeth; Gordon-Lipkin, Eliza; Kruk, Shannon; McGuire, Peter; Kruk, Shannon; Gordon-Lipkin, Eliza; Thompson, Elizabeth; Yeske, Phil; Martin, Lori; Hirano, Michio; Cohen, Bruce; Marcum, Chris; McGuire, Peter; Gordon-Lipkin, Eliza; Kruk, Shannon; Thompson, Elizabeth; Marcum, Chris; McGuire, Peter; Gordon-Lipkin, Eliza; Kruk, Shannon; Thompson, Elizabeth; Marcum, Chris; McGuire, Peter

发表日期：2022

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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients

外泌体microRNA作为Ia型糖原贮积症患者肝损伤和肾病的潜在生物标志物

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms23010328

Resaz, Roberta; Cangelosi, Davide; Segalerba, Daniela; Morini, Martina; Uva, Paolo; Bosco, Maria Carla; Banderali, Giuseppe; Estrella, Ana; Wanner, Corbinian; Weinstein, David A; Sechi, Annalisa; Paci, Sabrina; Melis, Daniela; Di Rocco, Maja; Lee, Young Mok; Eva, Alessandra

发表日期：2021

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The potential of dietary treatment in patients with glycogen storage disease type IV

饮食疗法在IV型糖原贮积症患者中的应用潜力

期刊:Journal of Inherited Metabolic Disease

影响因子:3.8

doi:10.1002/jimd.12339

Derks, Terry G J; Peeks, Fabian; de Boer, Foekje; Fokkert-Wilts, Marieke; van der Doef, Hubert P J; van den Heuvel, Marius C; Szymańska, Edyta; Rokicki, Dariusz; Ryan, Patrick T; Weinstein, David A

发表日期：2021

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Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

为了更深入地了解特发性酮症性低血糖：文献综述及患者组织“酮症性低血糖国际”介绍

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-021-01797-2

Drachmann, Danielle; Hoffmann, Erica; Carrigg, Austin; Davis-Yates, Beccie; Weaver, Valerie; Thornton, Paul; Weinstein, David A; Petersen, Jacob S; Shah, Pratik; Christesen, Henrik Thybo

发表日期：2021

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