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

Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study

一项横断面研究：26名患有X连锁低磷血症的四代家庭成员的生活质量

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2025.1544016
Alsagheir, Afaf I; Bin-Abbas, Bassam; Alghamdi, Nujud M; Alhuthil, Raghad T; Murad, Sarah A; Husein, Tala H; Mughal, M Zulf; Alsabban, Zehour E; Almarzoug, Layla M; Ramzan, Khushnooda
发表日期：2025
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Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement

阿司匹林α治疗儿童期起病的低磷酸血症患儿的活动能力和生活质量：英国管理准入协议的结果

期刊:Advances in Therapy
影响因子:4
doi:10.1007/s12325-025-03225-4
Padidela, Raja; Bishop, Nick; Arundel, Paul; Fang, Shona; Zygouras, Alexandros; Mughal, M Zulf; Shaw, Nick; Saraff, Vrinda
发表日期：2025
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Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis

儿童ABCC6缺乏症：基因型和表型分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04102-7
Bertamino, Marta; Goldberg, David J; Mughal, M Zulf; Pabst, Lisa; Liao, Yaping Joyce; Sun, Lisa R; Beckwell, Jane; Kozaric, Amina; du Moulin, Ruth; Swanner, Katie; Ferreira, Carlos R; Ziegler, Shira G
发表日期：2025
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Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2

ENPP1 缺乏症的表型特征：婴儿期全身性动脉钙化和常染色体隐性遗传性低磷酸血症性佝偻病 2 型

期刊:JBMR Plus
影响因子:2.4
doi:10.1093/jbmrpl/ziaf019
Ferreira, Carlos R; Hackbarth, Mary E; Nitschke, Yvonne; Botschen, Ulrike; Gafni, Rachel I; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Schou, I Manjula; Khursigara, Gus; Reardon, Oona; Burklow, Thomas R; Swanner, Kathleen; Rutsch, Frank
ENPP1
发表日期：2025
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Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need

无家族史时X连锁低磷血症的诊断延迟：全球亟待解决的问题

期刊:JBMR Plus
影响因子:2.4
doi:10.1093/jbmrpl/ziaf158
Uday, Suma; Mughal, M Zulf; Cassinelli, Hamilton; Florenzano, Pablo; Imel, Erik A; Simmons, Jill; Ward, Leanne M; Tewari, Shubham; Ciğeroğlu, Osman; Li, Zhiyi; Johnson, Ben; Sandilands, Kerry; Carpenter, Thomas O
发表日期：2025
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The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case-Control Study

X连锁低磷血症儿童和青少年诊断历程：一项基于人群的病例对照研究

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae069
Boardman-Pretty, Freya; Clift, Ashley Kieran; Mahon, Hadley; Sawoky, Nadine; Mughal, M Zulf
发表日期：2024
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Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis

一项真实世界、非干预性上市后安全性研究，评估布罗索单抗长期用于治疗X连锁低磷血症儿童和青少年的安全性：首次中期分析

期刊:Therapeutic Advances in Chronic Disease
影响因子:2.8
doi:10.1177/20406223241247643
Boot, Annemieke M; Ariceta, Gema; Beck-Nielsen, Signe Sparre; Brandi, Maria Luisa; Briot, Karine; Collantes, Carmen de Lucas; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Mughal, M Zulf; Mӓkitie, Outi; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Zillikens, M Carola; Liu, Jonathan; Tudor, Alina; Emma, Francesco
发表日期：2024
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The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

国际X连锁低磷血症（XLH）登记研究：基线人口统计学、遗传学和临床数据的首次中期分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02882-4
Ariceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M; Brandi, Maria Luisa; Briot, Karine; de Lucas Collantes, Carmen; Emma, Francesco; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Mӓkitie, Outi; Mughal, M Zulf; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Liu, Jonathan; Williams, Angela; Wood, Sue; Zillikens, M Carola
发表日期：2023
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Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries

布罗索单抗治疗儿童和青少年X连锁低磷血症：基于七个欧洲国家早期经验的意见

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2022.1034580
Mughal, M Zulf; Baroncelli, Giampiero I; de Lucas-Collantes, Carmen; Linglart, Agnès; Magnolato, Andrea; Raimann, Adalbert; Santos, Fernando; Schnabel, Dirk; Shaw, Nick; Nilsson, Ola
发表日期：2022
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Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description

布罗索单抗用于治疗X连锁低磷血症的儿童、青少年和成人患者的上市后安全性研究：原理和描述

期刊:Therapeutic Advances in Chronic Disease
影响因子:2.8
doi:10.1177/20406223221117471
Brandi, Maria Luisa; Ariceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M; Briot, Karine; de Lucas Collantes, Carmen; Emma, Francesco; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Mӓkitie, Outi; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Zillikens, M Carola; Liu, Jonathan; Tudor, Alina; Mughal, M Zulf
发表日期：2022
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