Article
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.
Pediatric nephrology (Berlin, Germany) - 1 Apr 2012
Quinlan Catherine, Guegan Katie, Offiah Amaka, Neill Richard O', Hiorns Melanie P, Ellard Sian, Bockenhauer Detlef, Hoff William Van't, Waters Aoife M
Abstract excerpt
Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation. We assessed the efficacy of combined calcitriol and orally administered phosphate (Pi) therapy on longitudinal growth in relation to age at treatment onset in a retrospective, single-center review of children...
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