Article
Pharmacological management of X-linked hypophosphataemia.
British journal of clinical pharmacology - 1 Jun 2019
Imel Erik A, White Kenneth E
Abstract excerpt
The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995. Although the exact molecular mechanisms by which PHEX mutations cause disturbed phosphate handling in XLH remain unknown, focus for novel therapies has more...
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