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 …
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 …
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 …
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 …
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …
C Degirolamo, C Sabbà, A Moschetta - Nature reviews Drug discovery, 2016 - nature.com
The endocrine fibroblast growth factors (FGFs), FGF19, FGF21 and FGF23, are critical for maintaining whole-body homeostasis, with roles in bile acid, glucose and lipid metabolism …
S Minisola, M Peacock, S Fukumoto… - Nature reviews Disease …, 2017 - nature.com
Abstract Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 …
TO Carpenter, NJ Shaw, AA Portale, LM Ward… - Nature Reviews …, 2017 - nature.com
Rickets is a bone disease associated with abnormal serum calcium and phosphate levels. The clinical presentation is heterogeneous and depends on the age of onset and …
In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses …