Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia
Author:
Funder
Ultragenyx Pharmaceutical
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00198-021-05875-w.pdf
Reference33 articles.
1. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL (2011) A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res 26:1381–1388
2. Florenzano P, Cipriani C, Roszko KL, Fukumoto S, Collins MT, Minisola S, Pepe J (2020) Approach to patients with hypophosphataemia. Lancet Diabetes Endocrinol 8:163–174
3. Marcucci G, Masi L, Ferrarì S, Haffner D, Javaid MK, Kamenický P, Reginster JY, Rizzoli R, Brandi ML (2018) Phosphate wasting disorders in adults. Osteoporos Int 29:2369–2387
4. Carpenter TO (2012) The expanding family of hypophosphatemic syndromes. J Bone Miner Metab 30:1–9
5. Che H, Roux C, Etcheto A, Rothenbuhler A, Kamenicky P, Linglart A, Briot K (2016) Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol 174:325–333
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1. X-linked hypophosphataemia;The Lancet;2024-08
2. Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives;Frontiers in Endocrinology;2023-07-20
3. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care;JBMR Plus;2023-05
4. Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia;Endocrines;2023-02-22
5. Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia;Journal of Bone and Mineral Research;2022-10-17
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