The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey

A Skrinar, M Dvorak-Ewell, A Evins… - Journal of the …, 2019 - academic.oup.com
Context X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth
factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We …

Continued beneficial effects of burosumab in adults with X-linked hypophosphatemia: results from a 24-week treatment continuation period after a 24-week double …

AA Portale, TO Carpenter, ML Brandi, K Briot… - Calcified tissue …, 2019 - Springer
Burosumab, a fully human monoclonal antibody to FGF23, is the only approved treatment for
X-linked hypophosphatemia (XLH), a rare genetic disorder characterized by renal …

Prevalence and mortality of individuals with X-linked hypophosphatemia: a United Kingdom real-world data analysis

S Hawley, NJ Shaw, A Delmestri… - The Journal of …, 2020 - academic.oup.com
Background X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a
prominent musculoskeletal phenotype. We aim here to improve understanding of the …

A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …

KL Insogna, K Briot, EA Imel… - Journal of Bone and …, 2018 - academic.oup.com
In X‐linked hypophosphatemia (XLH), inherited loss‐of‐function mutations in the PHEX
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …

Sustained efficacy and safety of burosumab, a monoclonal antibody to FGF23, in children with X-linked hypophosphatemia

A Linglart, EA Imel, MP Whyte… - The Journal of …, 2022 - academic.oup.com
Purpose In X-linked hypophosphatemia (XLH), excess fibroblast growth factor-23 causes
hypophosphatemia and low calcitriol, leading to musculoskeletal disease with clinical …

Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations

EA Imel, LA DiMeglio, SL Hui… - The Journal of …, 2010 - academic.oup.com
Abstract Context: X-Linked hypophosphatemia (XLH) is characterized by renal phosphate
wasting, with inappropriately low or normal serum 1, 25-dihydroxyvitamin D concentrations …

X-linked hypophosphatemia: a new era in management

K Dahir, MS Roberts, S Krolczyk… - Journal of the …, 2020 - academic.oup.com
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal
disease that often causes pain and short stature, as well as decreased physical function …

Consensus recommendations for the diagnosis and management of X-linked hypophosphatemia in Belgium

MR Laurent, J De Schepper, D Trouet… - Frontiers in …, 2021 - frontiersin.org
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic
rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated …

Burosumab improved histomorphometric measures of osteomalacia in adults with X‐linked hypophosphatemia: a phase 3, single‐arm, international trial

KL Insogna, F Rauch, P Kamenický, N Ito… - Journal of Bone and …, 2019 - academic.oup.com
In adults with X‐linked hypophosphatemia (XLH), excess FGF23 impairs renal phosphate
reabsorption and suppresses production of 1, 25‐dihydroxyvitamin D, resulting in chronic …

Burosumab therapy in children with X-linked hypophosphatemia

TO Carpenter, MP Whyte, EA Imel… - … England Journal of …, 2018 - Mass Medical Soc
Background X-linked hypophosphatemia is characterized by increased secretion of
fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently …