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.

Clinical Practice Guidelines

  1. Khan, A. A., Ali, D. S., Appelman-Dijkstra, N. M., Carpenter, T. O., Chaussain, C., Imel, E. A., Jan de Beur, S. M., Florenzano, P., Abu Alrob, H., Aldabagh, R., Alexander, R. T., Alsarraf, F., Beck-Nielsen, S. S., Biosse-Duplan, M., Cohen-Solal, M., Crowley, R. K., Dandurand, K., Filler, G., Friedlander, L., … Brandi, M. L. (2025). X-linked hypophosphatemia management in adults: An international working group clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism, dgaf170. https://doi.org/10.1210/clinem/dgaf170
  2. Ali, D. S., Carpenter, T. O., Imel, E. A., Ward, L. M., Appelman-Dijkstra, N. M., Chaussain, C., Jan de Beur, S. M., Florenzano, P., Abu Alrob, H., Aldabagh, R., Alexander, R. T., Alsarraf, F., Beck-Nielsen, S. S., Biosse-Duplan, M., Crowley, R. K., Dandurand, K., Filler, G., Friedlander, L., Fukumoto, S., … Khan, A. A. (2025). X-Linked Hypophosphatemia management in children: An international working group clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism, dgaf093. https://doi.org/10.1210/clinem/dgaf093
  3. Haffner, D., Emma, F., Seefried, L., Högler, W., Javaid, K. M., Bockenhauer, D., Bacchetta, J., Eastwood, D., Duplan, M. B., Schnabel, D., Wicart, P., Ariceta, G., Levtchenko, E., Harvengt, P., Kirchhoff, M., Gardiner, O., Di Rocco, F., Chaussain, C., Brandi, M. L., Savendahl, L., Briot, K., Kamenický, P., Rejnmark L., & Linglart A. (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, M., Espersen, R. B., Beck-Nielsen, S. S., Rejnmark, L., & Heegaard, A.-M. (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. Roskamp, L., De Castro Santos, V. L., De Campos, M. C. B. P., De Paris Matos Bronholo, T., Gonçalves, F. M., Neto, J. S., Mattos, N. H., Milani, C. M., Moreira, C. A., Perin, C. P., De Araújo, C. M., & Schroeder, A. G. D. (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
  2. Duplan, M.B., Le Norcy, E., Courson, F., & Chaussain, C. (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, K., Fuchs, R., Herzog, C., Steigbigel, K. D., & Macica, C. M. (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