Hyperparathyroidism in patients with X‐linked hypophosphatemia

AL Lecoq, P Chaumet‐Riffaud… - Journal of Bone and …, 2020 - academic.oup.com
ABSTRACT X‐linked hypophosphatemia (XLH) is characterized by increased activity of
circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization …

Burosumab treatment for autosomal recessive hypophosphatemic rickets type 1 (ARHR1)

X Bai, M Levental, AC Karaplis - The Journal of Clinical …, 2022 - academic.oup.com
Context Autosomal recessive hypophosphatemic rickets (ARHR) are rare, heritable renal
phosphate-wasting disorders that arise from overexpression of the bone-derived …

[HTML][HTML] Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand …

JL Sandy, C Nunez, BJ Wheeler, C Jefferies, A Morris… - Bone, 2023 - Elsevier
Background X-linked hypophosphataemia (XLH) is the most common heritable form of
rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 …

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

S Giannini, ML Bianchi, D Rendina, P Massoletti… - Osteoporosis …, 2021 - Springer
X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical
evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and …

Sclerostin Antibody Treatment Increases Bone Mass and Normalizes Circulating Phosphate Levels in Growing Hyp Mice

KA Carpenter, RD Ross - Journal of Bone and Mineral Research, 2020 - academic.oup.com
ABSTRACT X‐linked hypophosphatemia (XLH), caused by a loss‐of‐function mutation in
the phosphate regulating gene with homology to endopeptidase located on the X …

αKlotho–FGF23 interactions and their role in kidney disease: a molecular insight

ER Smith, SG Holt, TD Hewitson - Cellular and Molecular Life Sciences, 2019 - Springer
Following the serendipitous discovery of the ageing suppressor, αKlotho (αKl), several
decades ago, a growing body of evidence has defined a pivotal role for its various forms in …

[HTML][HTML] X-linked hypophosphatemia

MD Ruppe - GeneReviews®[Internet], 2017 - ncbi.nlm.nih.gov
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated
hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually …

Mineral metabolism in children: interrelation between vitamin D and FGF23

OD Pons-Belda, MA Alonso-Álvarez… - International journal of …, 2023 - mdpi.com
Fibroblast growth factor 23 (FGF23) was identified at the turn of the century as the long-
sought circulating phosphatonin in human pathology. Since then, several clinical and …

Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH)

N Fratzl-Zelman, S Gamsjaeger, S Blouin… - Journal of structural …, 2020 - Elsevier
X-linked hypophosphatemia (XLH) caused by PHEX mutations results in elevated serum
FGF23 levels, renal phosphate wasting and low 1, 25-dihydroxyvitamin D. The …

Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)

FH Glorieux, LF Bonewald, NC Harvey… - Orphanet Journal of …, 2022 - Springer
In recent years, much progress has been made in understanding the mechanisms of bone
growth and development over a lifespan, including the crosstalk between muscle and bone …