RESOURCES FOR YOUR PRACTICE TO HELP YOU UNDERSTAND, EVALUATE, AND MANAGE XLH
Downloads
XLH Overview Brochure
Read about considerations for recognizing and assessing XLH in your patients
PHEX/FGF23 TESTING BROCHURE
Find laboratories offering PHEX molecular testing or an FGF23 ELISA assay
SPONSORED GENETIC TESTING
Learn about a program providing no-charge testing for eligible patients suspected to have a genetic hypophosphatemic disorder
SPONSORED GENETIC COUNSELING
Learn about a program offering no-charge genetic counseling to eligible patients with XLH and their caregivers
XLH SYMPTOMS FLASHCARD
Symptoms of XLH are often shared by other rheumatic disorders. Learn how to differentiate XLH from others
Podcast
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
Ultragenyx-Sponsored Websites
HYPOPHOSPHATEMIA GENETIC TESTING
This program offers sponsored, no-charge genetic testing for hypophosphatemia disorders in eligible patients.
XLH Genetic Counseling
This program offers sponsored, no-charge genetic counseling support for eligible patients and their families.
SELECTED PUBLICATIONS
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.
X-LINKED HYPOPHOSPHATEMIA
Ruppe MD.
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
Quarles LD.
J Clin Invest. 2008;118(12):3820-3828.
RESOURCES FOR YOUR PATIENTS
Downloads
XLH TRANSITION TOOLKIT
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.
CAREGIVER RESOURCE BROCHURE
This resource is for people caring for or living with someone with XLH and provides tips and support to help them better manage their day-to-day and live well together.
Ultragenyx-Sponsored Websites
BEYOND XLH
BEYOND XLH is an online disease-monitoring program for patients with X-linked hypophosphatemia (XLH) and other chronic hypophosphatemic disorders.
XLH EVENTS PATIENT PROGRAMS
This online tool allows patients and caregivers to search for XLH patient programs happening near them. XLH Events patient programs are sponsored by Ultragenyx.
Websites
XLH network
The XLH network is a worldwide community of patients, caregivers, and medical professionals.
NIH GENETIC AND RARE DISEASES INFORMATION CENTER (GARD)
GARD maintains a list of rare diseases and related terms to help people find reliable information.
NATIONAL ORGANIZATION FOR RARE DISORDERS (NORD)
NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.
GLOBAL GENES
Global Genes is a rare disease patient advocacy organization that works to build awareness, educate the global community, and provide connection and resources.
