Abstract
The study on rare conditions (diseases) is still little explored worldwide, impacting the delay indiagnosis that takes, on average, five to seven years. One of these conditions - with a prevalence of4-5:1,000,000 live births in Brazil, is X-Linked Hypophosphatemia (XLH), a genetic disease thatconsists of the elimination of phosphate through urine causing low levels of phosphate in the blo…