RESOURCES FOR YOUR PRACTICE

 

Downloads

XLH Overview Brochure

Read about considerations for recognizing and assessing XLH in your patients

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XLH Diagnostic Testing Considerations

Learn about the diagnostic process for XLH

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PHEX/FGF23 TESTING BROCHURE

Find laboratories offering PHEX molecular testing or an FGF23 ELISA assay

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SPONSORED GENETIC TESTING

Learn about a program providing no-charge testing for eligible patients suspected to have a genetic hypophosphatemic disorder

Download

SPONSORED GENETIC COUNSELING

Learn about a program offering no-charge genetic counseling to eligible patients with XLH and their caregivers

Download

XLH SYMPTOMS FLASHCARD

Symptoms of XLH are often shared by other rheumatic disorders. Learn how to differentiate XLH from others

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Podcast

X-link hypophosphatemia podcast: diagnosis and care

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

Invitae: no-charge genetic testing for eligible patients with suspected hypophosphatemia
Hypophosphatemia genetic testing

HYPOPHOSPHATEMIA GENETIC TESTING

This program offers sponsored, no-charge genetic testing for hypophosphatemia disorders in eligible patients.

InformedDNA: no-charge genetic counseling for eligible patients with X-linked hypophosphatemia
XLH genetic counseling

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.

 

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.

Download

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.

Download


Ultragenyx-Sponsored Websites

BeyondXLH: X-linked hypophosphatemia disease monitoring program logo
BeyondXLH: X-linked hypophosphatemia disease monitoring program logo

BEYOND XLH

BEYOND XLH is an online disease-monitoring program for patients with X-linked hypophosphatemia (XLH) and other chronic hypophosphatemic disorders.

XLHEvents: Educational events for patients with X-linked hypophosphatemia logo
XLHEvents: Educational events for patients with X-linked hypophosphatemia logo

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: community for patients, caregivers, and medical professionals logo
XLH Network: community for patients, caregivers, and medical professionals logo

XLH network

The XLH network is a worldwide community of patients, caregivers, and medical professionals.

NIH Genetic and Rare Diseases (GARD) Information Center logo
NIH Genetic and Rare Diseases (GARD) Information Center logo

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 logo
National Organization for Rare Disorders logo

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: Allies in Rare Disease logo
Global Genes: Allies in Rare Disease logo

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.