日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Rhodopsin molecular evolution from mouse to human phenylalanine 88 to leucine substitution enhances thermal stability and post-activation decay

从鼠到人的视紫红质分子进化过程中,苯丙氨酸88被亮氨酸取代,增强了其热稳定性和激活后衰减。

Wang, Feifei; Kolesnikov, Alexander V; Sato, Shinya; Singh, Aneal; Makino, Clint L; Garriga, Pere; Kefalov, Vladimir J

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series

罕见c.-106C>A启动子区变异与晚发性鸟氨酸转氨甲酰酶缺乏症的生化、临床和功能特征:多家族病例系列研究

Tholl, Samuel Quinn; McCaul, Wendy; Rupar, Anthony; Napier, Melanie P; Karp, Natalya; Yu, Andrea C; Ratko, Suzanne; Khan, Aneal; Geraghty, Michael; Prasad, Chitra

Mitochondrial Transplantation in the Eye: A Review and Evaluation of Surgical Approaches

眼部线粒体移植:手术方法的回顾与评价

Cakir, Bertan; Yeh, Tsai-Chu; Lin, Cheng-Hui; Wu, Man-Ru; Boilard, Éric; Pelletier, Martin; Singh, Aneal M; Breton, Yann; Patel, Samir; Benson, Tom; Almeida, David Rp; Wang, Sui; Mahajan, Vinit B

Multi-omics liquid biopsy identifies mitochondrial dysfunction in geographic atrophy and supports the longevity-associated metabolite α-ketoglutarate as a therapeutic strategy

多组学液体活检可识别地图状萎缩中的线粒体功能障碍,并支持将与长寿相关的代谢物α-酮戊二酸作为一种治疗策略。

Yeh, Tsai-Chu; Velez, Gabriel; Prasad, Architesh; Lee, Soo Hyeon; Rasmussen, Ditte K; Kumar, Aarushi; Chadha, Madhumeeta; Dabaja, Mohamed Ziad; Singh, Aneal M; Sanislo, Steven; Smith, Stephen; Mryuthyunjaya, Prithvi; Montague, Artis; Bassuk, Alexander G; Almeida, David; Dufour, Antoine; Mahajan, Vinit B

Reduced-intensity conditioning in LV-mediated gene therapy for Fabry disease targeting HSPCs

针对法布里病的低通气介导基因治疗中,以造血干细胞为靶点的低通气介导基因治疗采用降低强度的预处理方案

Khan, Aneal; Barber, Dwayne L; Foley, Ronan; Keating, Armand; West, Michael L; Medin, Jeffrey A

Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial

慢病毒介导的基因疗法治疗法布里病:加拿大FACTs试验5年研究结束结果

Khan, Aneal; Barber, Dwayne L; McKillop, William M; Rupar, C Anthony; Auray-Blais, Christiane; Fraser, Graeme; Fowler, Daniel H; Berger, Alexandra; Foley, Ronan; Keating, Armand; West, Michael L; Medin, Jeffrey A

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

儿童X连锁低磷血症的管理:国际工作组临床实践指南

Ali, Dalal S; Carpenter, Thomas O; Imel, Erik A; Ward, Leanne M; Appelman-Dijkstra, Natasha M; Chaussain, Catherine; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rao, Christina; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Guyatt, Gordon; Brandi, Maria Luisa; Khan, Aliya A

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline

成人X连锁低磷血症的管理:国际工作组临床实践指南

Khan, Aliya A; Ali, Dalal S; Appelman-Dijkstra, Natasha M; Carpenter, Thomas O; Chaussain, Catherine; Imel, Erik A; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Cohen-Solal, Martine; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Ward, Leanne M; Guyatt, Gordon; Brandi, Maria Luisa

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

基因检测在准确诊断 X 连锁铁粒幼细胞性贫血中的作用:新的 ALAS2 突变和 X 染色体失活的影响

Jové-Solavera Daniel, Rámila Marta, Ferrer-Cortés Xènia, Olivella Mireia, Venturi Veronica, Morado Marta, Hernández-Rodríguez Ines, Khan Aneal, Pérez-Montero Santiago, Tornador Cristian, Germing Ulrich, Gattermann Norbert, Sanchez Mayka

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry

一项全球真实世界队列研究评估了米格司他治疗3.9年的肾脏和多系统疗效:来自followME Fabry Pathfinders注册研究的结果

Hughes, Derralynn A; Sunder-Plassmann, Gere; Jovanovic, Ana; Brand, Eva; West, Michael L; Bichet, Daniel G; Pisani, Antonio; Nowak, Albina; Torra, Roser; Khan, Aneal; Azevedo, Olga; Lehman, Anna; Linhart, Aleš; Rutecki, Jasmine; Giuliano, Joseph D; Krusinska, Eva; Nordbeck, Peter