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XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia.

作者信息

Seefried Lothar, Alzahrani Ali S, Wagner Carsten A, Eade Damian, Fintini Danilo, Haffner Dieter, Frookh Jamal Hasan, Bubbear Judith S, Guazzarotti Laura, Cheung Moira S, Abid Noina, Costa-Reis Patrícia, Ferreira Santos Rui, Beck-Nielsen Signe Sparre, Linglart Agnès

机构信息

Orthopedic Institute, König-Ludwig Haus, University of Würzburg, Würzburg, Germany.

Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

出版信息

Orphanet J Rare Dis. 2025 Sep 18;20(Suppl 2):477. doi: 10.1186/s13023-025-03930-x.

DOI:10.1186/s13023-025-03930-x
PMID:40968383
Abstract
摘要

相似文献

1
XLH Matters 2024: expert insights and practical tools for enhancing care of people living with X-linked hypophosphataemia.2024年XLH问题：改善X连锁低磷血症患者护理的专家见解与实用工具
Orphanet J Rare Dis. 2025 Sep 18;20(Suppl 2):477. doi: 10.1186/s13023-025-03930-x.
2
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).2022年XLH问题：改善X连锁低磷血症（XLH）患者治疗效果的见解与建议
Orphanet J Rare Dis. 2023 Oct 27;18(Suppl 2):333. doi: 10.1186/s13023-023-02883-3.
3
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.监测X连锁低磷血症儿童和成人的当前实践：全球专家经验调查
J Clin Endocrinol Metab. 2025 Jun 17;110(7):e2347-e2361. doi: 10.1210/clinem/dgaf180.
4
X-Linked HypophosphatemiaX连锁低磷血症
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Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.布罗索尤单抗在英国成人X连锁低磷血症（XLH）患者中的真实世界有效性
Calcif Tissue Int. 2025 Sep 18;116(1):122. doi: 10.1007/s00223-025-01433-2.
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JBMR Plus. 2025 Apr 30;9(7):ziaf078. doi: 10.1093/jbmrpl/ziaf078. eCollection 2025 Jul.
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Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.伴 X 连锁低磷血症的儿童和成人的肾钙质沉着症和肾功能：一项大型纵向研究的基线结果。
J Bone Miner Res. 2024 Sep 26;39(10):1493-1502. doi: 10.1093/jbmr/zjae127.
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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
J Clin Endocrinol Metab. 2025 Feb 17. doi: 10.1210/clinem/dgaf093.
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Bone Microarchitecture Evaluated by HR-PQCT in Chinese Adolescent and Pediatric Patients With X-Linked Hypophosphatemia.采用高分辨率外周定量计算机断层扫描评估中国青少年和儿童X连锁低磷血症患者的骨微结构
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3D-DXA reveals significant effects of burosumab on trabecular and cortical skeletal envelopes in symptomatic adults with X-linked Hypophosphatemia.3D-DXA显示，布罗索尤单抗对患有X连锁低磷血症的有症状成年人的小梁和皮质骨骨骼包膜有显著影响。
J Bone Miner Res. 2025 Jul 13. doi: 10.1093/jbmr/zjaf092.

本文引用的文献

1
Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.出版商更正：X连锁低磷血症诊断与管理的临床实践建议。
Nat Rev Nephrol. 2025 May;21(5):355. doi: 10.1038/s41581-025-00939-0.
2
XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes.XLH 相关事宜：一项不断发展的计划，旨在讨论新进展并分享临床经验以改善患者治疗效果。
Orphanet J Rare Dis. 2025 Feb 3;19(Suppl 2):497. doi: 10.1186/s13023-024-03387-4.
3
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
X连锁低磷血症诊断与管理的临床实践建议
Nat Rev Nephrol. 2025 May;21(5):330-354. doi: 10.1038/s41581-024-00926-x. Epub 2025 Jan 15.
4
Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.布罗索尤单抗与传统疗法治疗X连锁低磷血症儿童的疗效对比：开放标签3期延长期研究结果
JBMR Plus. 2024 Jan 4;8(1):ziad001. doi: 10.1093/jbmrpl/ziad001. eCollection 2024 Jan.
5
Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia.X 连锁低磷血症中抗成纤维细胞生长因子 23 治疗的牙齿影响。
Int J Oral Sci. 2023 Dec 6;15(1):53. doi: 10.1038/s41368-023-00259-8.
6
Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets.健康婴儿、儿童和青少年的完整 FGF23 浓度，以及在 X 连锁低磷性佝偻病患者中的诊断价值。
J Endocrinol Invest. 2024 Apr;47(4):873-882. doi: 10.1007/s40618-023-02202-4. Epub 2023 Nov 22.
7
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).2022年XLH问题：改善X连锁低磷血症（XLH）患者治疗效果的见解与建议
Orphanet J Rare Dis. 2023 Oct 27;18(Suppl 2):333. doi: 10.1186/s13023-023-02883-3.
8
MRI quantitative muscle characterization in children with X-linked hypophosphatemia.MRI 定量肌肉特征分析在 X 连锁低磷血症患儿中的应用。
Orthop Traumatol Surg Res. 2024 May;110(3):103713. doi: 10.1016/j.otsr.2023.103713. Epub 2023 Oct 18.
9
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.成人生长高度在 X 连锁低磷血症患者中数十年间得到改善：一项队列研究。
Eur J Endocrinol. 2023 Oct 17;189(4):469-475. doi: 10.1093/ejendo/lvad144.
10
Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X-linked hypophosphatemia.利用X连锁低磷血症的小鼠Hyp模型研究磷酸盐耗竭对关节软骨的生物力学影响。
JBMR Plus. 2023 Jul 11;7(10):e10796. doi: 10.1002/jbm4.10796. eCollection 2023 Oct.