Posts by: Patricia Inacio PhD

Patricia Inacio PhD

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.

February 24, 2021February 24, 2021

Study Finds Poor Mineralization in Teeth of XLH Children

News

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

February 17, 2021February 17, 2021

Trial Will Test Calcitriol on Bone Health; Now Recruiting in Boston

News

A Phase 1 trial is enrolling children and adults with X‐linked hypophosphatemia (XLH) to assess the effects of calcitriol, the active form of vitamin D, on kidney function and bone ... Read more

October 21, 2020October 21, 2020

Mouse Model May Help Test Therapies Targeting Bone, Joint Issues in XLH

News

A mouse model of X-linked hypophosphatemia (XLH) that mimics the skeletal alterations seen in human patients may be a valuable tool to test new therapies that aim to prevent bone ... Read more

September 10, 2020September 10, 2020

Key Topics on the Agenda for Virtual XLH Week

News

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

July 9, 2020July 9, 2020

Ankle Pain in XLH Adults May Indicate Inflammation, Case Study Says

News

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

July 2, 2020July 2, 2020

Study Suggests Ultrasound Technique as Radiation-free Way to Monitor Bone Health

News

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

June 18, 2020June 18, 2020

Top Research Priorities for Rare Musculoskeletal Diseases Identified in Survey

News

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

May 20, 2020May 20, 2020

New PHEX Gene Mutations Alter Protein Location, But Don’t Aggravate XLH, Study Finds

News

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

March 9, 2020March 9, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

News

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

January 22, 2020January 22, 2020

Study Finds Rare Mutation Linked to Mild XLH Disease That Affects Mainly Girls

News

A mutation in a region of the PHEX gene — a region containing no information to make proteins — leads to mild X-linked hypophosphatemia (XLH), especially in females, compared to ... Read more