XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)-Reference-Cited by-同舟云学术

XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

Published:2023-10-27 Issue:S2 Volume:18 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Seefried Lothar,Alzahrani Ali,Arango Sancho Pedro,Bacchetta Justine,Crowley Rachel,Emma Francesco,Gibbins Jonathan,Grandone Anna,Javaid Muhammad Kassim,Mindler Gabriel,Raimann Adalbert,Rothenbuhler Anya,Tucker Ian,Zeitlin Leonid,Linglart Agnès

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/s13023-023-02883-3.pdf

Reference39 articles.

1. Beck-Nielsen SS, et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis. 2019;14:58.

2. Haffner D, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15:435–55.

3. Cheung M, et al. Patient-reported complications, symptoms, and experiences of living with X-linked hypophosphatemia across the life-course. J Endocr Soc. 2021;5:bvab070.

4. Skrinar A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3:1321–34.

5. Raimann A, et al. Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives. Wien Med Wochenschr. 2020;170:116–23.

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1. Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study;Bone;2024-10

2. Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets;Bone Reports;2024-06

3. Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology;Frontiers in Endocrinology;2024-04-19

4. X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs;European Journal of Medical Genetics;2024-04