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 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 …
FGF23 and its role in X-linked hypophosphatemia-related morbidity
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 …
Skeletal and extraskeletal disorders of biomineralization
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 …
The role of biomineralization in disorders of skeletal development and tooth formation
The major mineralized tissues are bone and teeth, which share several mechanisms
governing their development and mineralization. This crossover includes the hormones that …
governing their development and mineralization. This crossover includes the hormones that …
Rickets guidance: part I—diagnostic workup
D Haffner, M Leifheit-Nestler, A Grund, D Schnabel - Pediatric Nephrology, 2022 - Springer
Rickets is a disease of the growing child arising from alterations in calcium and phosphate
homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth …
homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth …
Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)
A Rothenbuhler, D Schnabel, W Högler, A Linglart - Metabolism, 2020 - Elsevier
Early diagnosis, optimal therapeutic management and regular follow up of children with X-
linked hypophosphatemia (XLH) determine their long term outcomes and future quality of …
linked hypophosphatemia (XLH) determine their long term outcomes and future quality of …
Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
This systematic review collated evidence on the burden of XLH in adults. Data captured
highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs …
highlight the substantial ongoing burden of XLH in adulthood and identified unmet needs …
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 …
rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated …