Last Updated: 09/26/2026
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Found 60 publications
Burosumab treatment in an adult with FGF23-mediated hypophosphatemia due to cutaneous skeletal hypophosphatemia syndrome.
Journal: Journal of the Endocrine Society
Published: October 19, 2025
Prolonged Heparin Re-Exposure in a Patient With Previous Heparin-Induced Thrombocytopenia (HIT).
Journal: International journal of laboratory hematology
Published: May 21, 2025
Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases.
Journal: Orphanet journal of rare diseases
Published: May 21, 2025
Surgical Treatment of Tibial Tubercle Fractures in Osteogenesis Imperfecta: A Restrospective Case Series.
Journal: Journal of the Pediatric Orthopaedic Society of North America
Published: May 08, 2025
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults.
Journal: Journal of bone and mineral metabolism
Published: October 03, 2024
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 12, 2024
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 12, 2024
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 12, 2024
Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 20, 2024
Influence of Sex and Gender on Musculoskeletal Conditions and How They Are Reported.
Journal: The Journal of bone and joint surgery. American volume
Published: July 02, 2024
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Journal: Calcified tissue international
Published: March 16, 2024
Rare genetic skeletal disorders: Evolving terminology, therapies, education and advocacy.
Journal: Journal of the Pediatric Orthopaedic Society of North America
Published: January 10, 2024
Last Updated: 09/26/2026