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

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP

艾夫西福他酶α可改善低磷酸血症小鼠模型肌肉组织的呼吸能力

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70057
Devore, Denise; Ruanova, Juan; Voegtli, Walter; Dunn, Derek; Decker, John; Mazzantini, Maurizio; De Tata, Vincenzo; Scavuzzo, Maria Concetta; Conti, Francesco; Petryk, Anna; Brandi, Maria Luisa
Mouse
发表日期：2026
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Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

全球HPP注册研究中，ALPL变异体数量与非危及生命的低磷酸血症患者的疾病负担之间的关系

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2024-110383
Kishnani, Priya S; Seefried, Lothar; Dahir, Kathryn M; Martos-Moreno, Gabriel Á; Högler, Wolfgang; Greenberg, Cheryl R; Fang, Shona; Petryk, Anna; Mowrey, William R; Linglart, Agnès; Ozono, Keiichi
发表日期：2025
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The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data

全球低磷酸酶症登记处：从十年真实世界数据中汲取的经验教训

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04129-w
Kishnani, Priya S; Seefried, Lothar; Ozono, Keiichi; Martos-Moreno, Gabriel Ángel; Rockman-Greenberg, Cheryl; Fowler, Deborah; Burke, Luke K; Mowrey, William R; Rush, Eric T; Ebeling, Peter R; Högler, Wolfgang; Linglart, Agnès; Fang, Shona; Petryk, Anna; Dahir, Kathryn M
发表日期：2025
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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry

阿司匹林α治疗成人低磷酸酯酶症的疗效：一项全球注册研究的结果

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03048-6
Kishnani, Priya S; Martos-Moreno, Gabriel Ángel; Linglart, Agnès; Petryk, Anna; Messali, Andrew; Fang, Shona; Rockman-Greenberg, Cheryl; Ozono, Keiichi; Högler, Wolfgang; Seefried, Lothar; Dahir, Kathryn M
发表日期：2024
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Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

对具有低磷酸酯酶症临床特征但ALPL变异阴性的成年人进行全基因组测序

期刊:Molecular Biology Reports
影响因子:2.8
doi:10.1007/s11033-024-09906-7
Seefried, Lothar; Petryk, Anna; Del Angel, Guillermo; Reder, Felix; Bauer, Peter
发表日期：2024
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Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit

改善罕见骨病（RBD）患者的诊疗路径：首届RBD峰会成果

期刊:Osteoporosis International
影响因子:5.4
doi:10.1007/s00198-023-06791-x
Chandran, Manju; Alves, Ines; Carpenter, Thomas; Davis, Michelle; Hsiao, Edward C; Petryk, Anna; Semler, Jorg Oliver; Sleiman, Marwan
发表日期：2023
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Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

肌肉症状和/或疼痛对成人低磷酸酯酶症患者的疾病特征、残疾程度和生活质量的影响：来自全球低磷酸酯酶症注册研究的横断面分析

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2023.1138599
Dahir, Kathryn M; Kishnani, Priya S; Martos-Moreno, Gabriel Ángel; Linglart, Agnès; Petryk, Anna; Rockman-Greenberg, Cheryl; Martel, Samantha E; Ozono, Keiichi; Högler, Wolfgang; Seefried, Lothar
发表日期：2023
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Growth and disease burden in children with hypophosphatasia

低磷酸酯酶症患儿的生长发育和疾病负担

期刊:Endocrine Connections
影响因子:2.8
doi:10.1530/EC-22-0240
Högler, Wolfgang; Linglart, Agnès; Petryk, Anna; Kishnani, Priya S; Seefried, Lothar; Fang, Shona; Rockman-Greenberg, Cheryl; Ozono, Keiichi; Dahir, Kathryn; Martos-Moreno, Gabriel Ángel
发育与干细胞
发表日期：2023
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Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

全球低磷酸血症登记研究中接受治疗和未接受治疗的成年低磷酸血症患者的临床特征

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02393-8
Dahir, Kathryn M; Seefried, Lothar; Kishnani, Priya S; Petryk, Anna; Högler, Wolfgang; Linglart, Agnès; Martos-Moreno, Gabriel Ángel; Ozono, Keiichi; Fang, Shona; Rockman-Greenberg, Cheryl
发表日期：2022
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Physical Function and Health-Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia

接受阿司匹林α治疗的儿童期发病低磷酸血症成年患者的身体功能和健康相关生活质量

期刊:JBMR Plus
影响因子:2.4
doi:10.1002/jbm4.10395
Genest, Franca; Rak, Dominik; Petryk, Anna; Seefried, Lothar
发表日期：2020
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