The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
Author:
Funder
Kyowa Hakko Kirin
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-020-01434-4.pdf
Reference32 articles.
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2. Liu S, Guo R, Simpson LG, Xiao Z-S, Burnham CE, Quarles LD. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem. 2003;278:37419–26. https://doi.org/10.1074/jbc.M304544200 .
3. Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM. FGF23 is processed by proprotein convertases but not by PHEX. Bone. 2004;35:455–62. https://doi.org/10.1016/j.bone.2004.04.002 .
4. Murali SK, Andrukhova O, Clinkenbeard EL, White KE, Erben RG. Excessive Osteocytic Fgf23 secretion contributes to pyrophosphate accumulation and mineralization defect in Hyp mice. PLoS Biol. 2016;14:e1002427. https://doi.org/10.1371/journal.pbio.1002427 .
5. Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009;160:491–7. https://doi.org/10.1530/EJE-08-0818 .
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