XLH Resources by Logan Rath, PhD
Academic Resources for XLH
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
- Haffner, D., Emma, F., Seefried, L. et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol (2025). https://doi.org/10.1038/s41581-024-00926-x
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.
Dental
- 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
- 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