Three new mutations in the PHEX gene — which provides instructions for making an enzyme primarily active in the bones and teeth — were found in a study of ... Read more
The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what life is like with a rare disease, while raising awareness through their work of these ... Read more
Vitamin D dietary supplements can promote bone mineralization without changing phosphate levels or causing calcium to rise to unhealthy levels and form solid deposits in the kidneys. That finding, ... Read more
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders ... Read more
Abnormal activity of the parathyroid glands can change the extent to which phosphate is reabsorbed by the kidneys in people with X-linked hypophosphatemia (XLH), a new study indicates. The ... Read more
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to ... Read more
A new genetic sequencing panel could be used to help diagnose X-linked hypophosphatemia (XLH) and related conditions. The panel was described in the European Journal of Endocrinology, in the study ... Read more
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about ... Read more
The recommended starting dose of Crysvita (burosumab) is too low to effectively manage X-linked hypophosphatemia (XLH) in children with the rare inherited disorder, a Swedish study indicates. That dose, ... Read more
The prevalence of X-linked hypophosphatemia (XLH) in the Brazilian state of Paraná is lower than elsewhere in the world, at about five cases per million inhabitants, according to a ... Read more
