Marisa Wexler, MS,  Senior Science Writer—

A study of Chinese children with X-linked hypophosphatemia (XLH) found 28 new mutations in the PHEX gene that cause the rare and progressive inherited disorder. While uncommon genetic alterations were uncovered, the children’s symptoms and the clinical findings were in line with typical XLH complications. The study,…

The Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency, has recommended that the approval of Crysvita (burosumab) be expanded to include all adolescents and adults with X-linked hypophosphataemia (XLH) and evidence of bone disease. If accepted by the European Commission —…

Researchers found a new mutation in the PHEX gene that causes X-linked hypophosphatemia (XLH) in a Japanese family, according to a case report. Titled “Phenotypes of a family with XLH with a novel PHEX mutation,” the report was published in the journal Human Genome…

If combined with an approach that targets hallmark abnormalities in X-linked hypophosphatemia (XLH), treatment with growth hormone could normalize bone growth and structure in these patients, a study in mice suggests. The study, “MAPK inhibition and growth hormone: a promising therapy in XLH,” was published…