Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic
variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and …
variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and …
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …
associated rickets of genetic origin and is associated with high levels of the phosphaturic …
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 …
fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently …
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
Background X-linked hypophosphataemia in children is characterised by elevated serum
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …
A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …
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 …
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …
FGF23 and its role in X-linked hypophosphatemia-related morbidity
SS Beck-Nielsen, Z Mughal, D Haffner… - Orphanet Journal of …, 2019 - Springer
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …
Importance of dietary phosphorus for bone metabolism and healthy aging
J Serna, C Bergwitz - Nutrients, 2020 - mdpi.com
Inorganic phosphate (Pi) plays a critical function in many tissues of the body: for example, as
part of the hydroxyapatite in the skeleton and as a substrate for ATP synthesis. Pi is the main …
part of the hydroxyapatite in the skeleton and as a substrate for ATP synthesis. Pi is the main …
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 …
factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We …
Skeletal and extraskeletal disorders of biomineralization
MT Collins, G Marcucci, HJ Anders, G Beltrami… - Nature Reviews …, 2022 - nature.com
The physiological process of biomineralization is complex and deviation from it leads to a
variety of diseases. Progress in the past 10 years has enhanced understanding of the …
variety of diseases. Progress in the past 10 years has enhanced understanding of the …