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

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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

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SPONSORED GENETIC COUNSELING

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

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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

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
Hypophosphatemia genetic testing

HYPOPHOSPHATEMIA GENETIC TESTING

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

XLH genetic counseling
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® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

 

THERAPEUTIC MANAGEMENT OF HYPOPHOSPHATEMIC RICKETS FROM INFANCY TO ADULTHOOD
Linglart A, Biosse-Duplan M, Briot K, et al.
Endocr Connect. 2014;3(1):R13-30.

 

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.

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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.

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Ultragenyx-Sponsored Websites

XLH network is a community of people with XLH or have an interest learning about XLH
XLH network is a community of people with XLH or have an interest learning about XLH

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
XLH Events Patient Programs

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 is a community of people with XLH or have an interest learning about XLH
XLH network is a community of people with XLH or have an interest learning about XLH

XLH network

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

XLH-DMP is a monitoring program for people with XLH
XLH-DMP is a monitoring program for people with XLH

NIH GENETIC AND RARE DISEASES INFORMATION CENTER (GARD)

GARD maintains a list of rare diseases and related terms to help people find reliable information.

XLH expert in children

Dr. Thomas Carpenter — Professor of Endocrinology at Yale University

Watch Dr. Carpenter discuss his experiences diagnosing children with XLH

XLH expert in adults

Dr. Erik Imel — Associate Professor of Medicine and Pediatrics at Indiana University

Watch Dr. Imel provide insights about his clinical experience managing adults with XLH

Brothers with XLH

The role of FGF23 in regulating phosphate

Learn about the action of FGF23

A woman with XLH

Meet Cheryl

See how Cheryl manages living with XLH

Brothers’ Story

See the real-life consequences of XLH

Meet Natascha

See how Natascha tackles her XLH every day

Osteomalacia, a hallmark of XLH

Learn how osteomalacia affects bones and leads to various skeletal complications