RESOURCES FOR YOUR PRACTICE TO HELP YOU UNDERSTAND, EVALUATE, AND MANAGE XLH
THE FORGOTTEN DISEASE
Learn how doctors approach the diagnosis and care of XLH in a family in this episode of DDx, a podcast by Figure 1
These publications were selected for inclusion here as sources of relevant open access information about XLH. (last revised: 03/2019)
OUTCOME OF ADULT PATIENTS WITH X-LINKED HYPOPHOSPHATEMIA CAUSED BY PHEX GENE MUTATIONS
Chesher D, Oddy M, Darbar U, et al.
J Inherit Metab Dis. 2018;41(5):865-876.
In: Adam MP, Ardinger HH, Pagon RA, et al, eds.
GeneReviews®. University of Washington, Seattle; 1993-2022. Published February 9, 2012. Updated April 13, 2017.
THERAPEUTIC MANAGEMENT OF HYPOPHOSPHATEMIC RICKETS FROM INFANCY TO ADULTHOOD
Linglart A, Biosse-Duplan M, Briot K, et al.
Endocr Connect. 2014;3(1):R13-R30.
A CLINICIAN’S GUIDE TO X-LINKED HYPOPHOSPHATEMIA
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.
J Bone Miner Res. 2011;26(7):1381-1388.
ENDOCRINE FUNCTIONS OF BONE IN MINERAL METABOLISM REGULATION
J Clin Invest. 2008;118(12):3820-3828.
RESOURCES FOR YOUR PATIENTS
This toolkit is designed to provide information and resources to help young adults with XLH and their parents/caregivers prepare to transition to adult healthcare. It will also spark some thoughts about other parts of adulthood with XLH – from dating to managing mental health.
BEYOND XLH is an online disease-monitoring program for patients with X-linked hypophosphatemia (XLH) and other chronic hypophosphatemic disorders.
This online tool allows patients and caregivers to search for XLH patient programs happening near them. XLH Events patient programs are sponsored by Ultragenyx.
The XLH network is a worldwide community of patients, caregivers, and medical professionals.
GARD maintains a list of rare diseases and related terms to help people find reliable information.
NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.
Global Genes is a rare disease patient advocacy organization that works to build awareness, educate the global community, and provide connection and resources.