Article

The Metabolic Bone Disease X-Linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology

2021-05-10

Abstract excerpt

The authors present a stereotypical case presentation of x-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X chromosome)....

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Literature Corpus work: b09c8f7c-ce78-5f63-b224-522af1ebe013
DOI: 10.20944/preprints202105.0202.v1

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