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

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

CDKL5 缺乏症的基线特征和临床结局指标的可行性：CANDID 观察性研究

期刊:Epilepsia
影响因子:6.6
doi:10.1002/epi.70095
Liogier d'Ardhuy, Xavier; Cimms, Tricia; Lindsten, Kristina; Rizzo, Marco; Skrinar, Alison; St Wecker, Peter; Mingorance, Ana; Devinsky, Orrin
发表日期：2026
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Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia

布罗索单抗与常规疗法对X连锁低磷血症患儿（年龄较小和年龄较大）的疗效比较

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgac296
Ward, Leanne M; Glorieux, Francis H; Whyte, Michael P; Munns, Craig F; Portale, Anthony A; Högler, Wolfgang; Simmons, Jill H; Gottesman, Gary S; Padidela, Raja; Namba, Noriyuki; Cheong, Hae Il; Nilsson, Ola; Mao, Meng; Chen, Angel; Skrinar, Alison; Roberts, Mary Scott; Imel, Erik A
发表日期：2022
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Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia

Burosumab（一种针对FGF23的单克隆抗体）在X连锁低磷血症患儿中的持续疗效和安全性

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgab729
Linglart, Agnès; Imel, Erik A; Whyte, Michael P; Portale, Anthony A; Högler, Wolfgang; Boot, Annemieke M; Padidela, Raja; Van't Hoff, William; Gottesman, Gary S; Chen, Angel; Skrinar, Alison; Scott Roberts, Mary; Carpenter, Thomas O
单克隆抗体
FGF2
发表日期：2022
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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy

一项针对患有GNE肌病的成年人的为期3年的非干预性观察性疾病监测计划的结果

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-200565
Lochmüller, Hanns; Behin, Anthony; Tournev, Ivailo; Tarnopolsky, Mark; Horváth, Rita; Pogoryelova, Oksana; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Kakkis, Emil; Bedrosian, Camille L; Mozaffar, Tahseen
发表日期：2021
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Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

一项随机、活性对照、开放标签的3期临床试验中，布罗索单抗与常规疗法治疗X连锁低磷血症患儿的患者报告结局

期刊:Calcified Tissue International
影响因子:3.2
doi:10.1007/s00223-020-00797-x
Padidela, Raja; Whyte, Michael P; Glorieux, Francis H; Munns, Craig F; Ward, Leanne M; Nilsson, Ola; Portale, Anthony A; Simmons, Jill H; Namba, Noriyuki; Cheong, Hae Il; Pitukcheewanont, Pisit; Sochett, Etienne; Högler, Wolfgang; Muroya, Koji; Tanaka, Hiroyuki; Gottesman, Gary S; Biggin, Andrew; Perwad, Farzana; Williams, Angela; Nixon, Annabel; Sun, Wei; Chen, Angel; Skrinar, Alison; Imel, Erik A
发表日期：2021
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Growth Curves for Children with X-linked Hypophosphatemia

X连锁低磷血症患儿的生长曲线

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgaa495
Mao, Meng; Carpenter, Thomas O; Whyte, Michael P; Skrinar, Alison; Chen, Chao-Yin; San Martin, Javier; Rogol, Alan D
发表日期：2020
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OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial

OR29-01 使用全人源抗FGF23单克隆抗体布罗索单抗治疗X连锁低磷血症（XLH）成人患者的长期安全性：3期试验的最终结果

期刊:Journal of Cardiology Cases
影响因子:
doi:10.1016/j.jccase.2020.03.008
Shiraga, Kazuhiro; Hirata, Yoichiro; Saito, Akihito; Ozcelik, Nazire; Asakai, Hiroko; Inuzuka, Ryo; Soma, Katsura; Sato, Masaaki; Hirata, Yasutaka; Oka, Akira; Perwad, Farzana; Portale, Anthony A; Carpenter, Thomas O; Briot, Karine; Imel, Erik Allen; Kamenicky, Peter; Weber, Thomas Joseph; Pitukcheewanont, Pisit; Cheong, Hae Il; De Beur, Suzanne Marie Jan; Imanishi, Yasuo; Ito, Nobuaki; Lachmann, Robin; Tanaka, Hiroyuki; Zhang, Lin; Skrinar, Alison; Rees, Linda; Insogna, Karl Leonard
单克隆抗体
FGF2
Human
发表日期：2020
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Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

布罗索单抗与常规疗法治疗X连锁低磷血症患儿：一项随机、阳性对照、开放标签的3期临床试验

期刊:Lancet
影响因子:88.5
doi:10.1016/S0140-6736(19)30654-3
Imel, Erik A; Glorieux, Francis H; Whyte, Michael P; Munns, Craig F; Ward, Leanne M; Nilsson, Ola; Simmons, Jill H; Padidela, Raja; Namba, Noriyuki; Cheong, Hae Il; Pitukcheewanont, Pisit; Sochett, Etienne; Högler, Wolfgang; Muroya, Koji; Tanaka, Hiroyuki; Gottesman, Gary S; Biggin, Andrew; Perwad, Farzana; Mao, Meng; Chen, Chao-Yin; Skrinar, Alison; San Martin, Javier; Portale, Anthony A
发表日期：2019
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A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

一项评估唾液酸缓释剂治疗GNE肌病的3期随机研究

期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000006932
Lochmüller, Hanns; Behin, Anthony; Caraco, Yoseph; Lau, Heather; Mirabella, Massimiliano; Tournev, Ivailo; Tarnopolsky, Mark; Pogoryelova, Oksana; Woods, Catherine; Lai, Alexander; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Mansbach, Hank; Kakkis, Emil; Mozaffar, Tahseen
发表日期：2019
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Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

GNE肌病患者异质性国际队列的表型分层和基因型-表型相关性：GNE肌病疾病监测计划登记部分的首份报告

期刊:Neuromuscular Disorders
影响因子:2.8
doi:10.1016/j.nmd.2017.11.001
Pogoryelova, Oksana; Cammish, Phillip; Mansbach, Hank; Argov, Zohar; Nishino, Ichizo; Skrinar, Alison; Chan, Yiumo; Nafissi, Shahriar; Shamshiri, Hosein; Kakkis, Emil; Lochmüller, Hanns
发表日期：2018
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