RESOURCES FOR YOUR PRACTICE
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
This program offers sponsored, no-charge genetic testing for hypophosphataemia disorders in eligible patients.
An educational tool for learning how to accurately assess patients with X-linked hypophosphatemic (XLH) rickets using the Rickets Severity Score (RSS).
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 HYPOPHOSPHATAEMIA 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® [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 HYPOPHOSPHATAEMIA
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
The XLH network is a worldwide community of patients, caregivers, and medical professionals.
Educational events in support of childhood-onset bone disorders in Canada for clinicians, patients, and families.
Rare disease public policy advocacy, education and research.
Rare disease information for people living in Quebec.
Dr. Thomas Carpenter — Professor of Endocrinology at Yale University
Watch Dr. Carpenter discuss his experiences diagnosing children with XLH
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
The role of FGF23 in regulating phosphate
Learn about the action of FGF23
See how Cheryl manages living with XLH
See the real-life consequences of XLH
See how Natascha tackles her XLH every day
Osteomalacia, a hallmark of XLH
Learn how osteomalacia affects bones and leads to various skeletal complications