XLH: What the fun!

XLH Research

XLH, or x-linked hypophosphatemia is a rare disease where the body wastes phosphorous. This condition affects approximately 1 in 20,000 people.

I’m an academic librarian with XLH. I will be using this page to catalog significant scholarly articles and resources on XLH to enable discovery of these works. Links to open access versions of articles will be provided when possible. I will also attempt to tag sources in ways that help them be more discoverable.

Condition Overview

Clinical Practice Guidelines

  1. Khan et al. (2025). X-linked hypophosphatemia management in adults: An international working group clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism.
  2. Ali, D. S. (2025). X-Linked Hypophosphatemia management in children: An international working group clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism
  3. Haffner, D. et al. (2025). Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nature Reviews Nephrology.

General

  1. Böckmann, I., & Haffner, D. (2025). The diagnosis and therapy of XLH. Calcified Tissue International, 116(1), 66. https://doi.org/10.1007/s00223-025-01374-w
  2. Diaz-delCastillo et al. (2025). Pain, quality of life, and mental health in adults with X-linked hypophosphatemia: A cross-sectional study. The Journal of Clinical Endocrinology & Metabolism, dgaf104. [https://doi.org/10.1210/clinem/dgaf104]

Dental

  1. Buzato et al. (2026). Oral assessment of patients with X-linked hypophosphatemic rickets. The Journal of the American Dental Association, S0002817726001601.
  2. Lee et al. (2026). Dental manifestations of rare skeletal disorders. The Journal of the American Dental Association, 157(8), 904–916. (specifically pp. 911 – 913).
  3. Roskamp et al. (2026). Diagnosis and management of X-linked hypophosphatemia in dental practice: A scoping review. Bone, 212, 117994. https://doi.org/10.1016/j.bone.2026.117994
  4. Duplan et al. (2021). Dental and periodontal features and management in XLH children and adults. International Journal of Bone Fragility, 1(2), 77-79.

Physical Therapy

  1. Kanamalla et al. (2022). An evidence-based physical therapy prescription for adults With x-linked hypophosphatemia. Journal of the Endocrine Society, 6, 1-14. https://doi.org/10.1210/jendso/bvac094

Websites for XLH