Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner, F Emma, DM Eastwood… - Nature Reviews …, 2019 - nature.com
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate
wasting and is associated with severe complications such as rickets, lower limb deformities …

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …

A Trombetti, N Al-Daghri, ML Brandi… - Nature Reviews …, 2022 - nature.com
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 …

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel, FH Glorieux, MP Whyte, CF Munns, LM Ward… - The Lancet, 2019 - thelancet.com
Background X-linked hypophosphataemia in children is characterised by elevated serum
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …

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 …

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 …

The role of biomineralization in disorders of skeletal development and tooth formation

CS Kovacs, C Chaussain, P Osdoby… - Nature Reviews …, 2021 - nature.com
The major mineralized tissues are bone and teeth, which share several mechanisms
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 …

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 …

Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review

L Seefried, M Smyth, R Keen, P Harvengt - Osteoporosis International, 2021 - Springer
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 …

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 …