Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Rheumatology
Link
http://link.springer.com/content/pdf/10.1007/s10067-010-1607-z.pdf
Reference28 articles.
1. Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L et al (2007) Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets. Calcif Tissue Int 81(6):415–420
2. Econs MJ, Francis F (1997) Positional cloning of the PHEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets. Am J Physiol 273:F489–F498
3. Prié D, Friedlander G (2010) Genetic disorders of renal phosphate transport. N Engl J Med 362(25):2399–2409
4. Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T et al (2009) Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 161(4):647–651
5. Qiu G, Liu C, Zhou J, Liu P, Wang J, Jiang H et al (2010) Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets. Genet Test Mol Biomarkers 14(3):385–391
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1. Changes in Bone Mineral Density Following Conventional Oral Phosphonate Treatment of Hypophosphatemic Osteomalacia: A Non-Randomized Controlled Study;International Journal of General Medicine;2021-11
2. Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review;Osteoporosis International;2020-07-24
3. Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points;Value in Health;2018-08
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