Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.
The teeth of children with X-linked hypophosphatemia (XLH) are marked by defects in mineralization affecting the three layers of hard dental tissue — enamel, dentin and cementum — a small ... Read more
The Virtual XLH Week 2020, a series of online events bringing together people with X-linked hypophosphatemia (XLH), their families, caregivers, and healthcare professionals, is open for registration. Organized by the XLH Network, ... Read more
X-linked hypophosphatemia (XLH) can cause inflammation of ligaments, tendons, or joint capsules where they attach to bone — a condition called enthesopathy — and result in ankle pain, a case ... Read more
A recent ultrasound technique, called bi-directional axial transmission (BDAT), is a radiation-free way to help evaluate bone health and monitor treatment response in people with X-linked hypophosphatemia (XLH), a study ... Read more
Better understanding of disease progression during adulthood and identifying effective treatments and symptom management approaches are top research priorities for X-linked hypophosphatemia (XLH) and other rare musculoskeletal disorders that were ... Read more
Novel mutations in the PHEX gene, the underlying cause of X-linked hypophosphatemia (XLH), do not aggravate the severity of the disease in children, a study from China shows. Certain mutations, however, ... Read more
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking ... Read more