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 …

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

C Bergwitz, KI Miyamoto - Pflügers Archiv-European Journal of Physiology, 2019 - Springer
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare
autosomal recessive disorder with an estimated prevalence of 1: 250,000 that was originally …

Peripheral quantitative computed tomography (pQCT) for the assessment of bone strength in most of bone affecting conditions in developmental age: a review

S Stagi, L Cavalli, T Cavalli, M de Martino… - Italian journal of …, 2016 - Springer
Peripheral quantitative computed tomography provides an automatical scan analysis of
trabecular and cortical bone compartments, calculating not only their bone mineral density …

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 …

[HTML][HTML] The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk

EM Pastor-Arroyo, N Gehring, C Krudewig… - Kidney international, 2018 - Elsevier
High circulating fibroblast growth factor 23 (FGF23) levels are probably a major risk factor for
cardiovascular disease in chronic kidney disease. FGF23 interacts with the receptor FGFR4 …

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia

T Boukpessi, B Hoac, BR Coyac, T Leger, C Garcia… - Bone, 2017 - Elsevier
Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX
mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone …

Quantitative computer tomography in children and adolescents: the 2013 ISCD Pediatric Official Positions

JE Adams, K Engelke, BS Zemel, KA Ward - Journal of Clinical …, 2014 - Elsevier
Abstract In 2007, International Society of Clinical Densitometry Pediatric Positions Task
Forces reviewed the evidence for the clinical application of peripheral quantitative computed …

[HTML][HTML] Multidisciplinary patient care in X‐linked hypophosphatemic rickets: one challenge, many perspectives

A Raimann, GT Mindler, R Kocijan… - Wiener Medizinische …, 2020 - ncbi.nlm.nih.gov
X‑linked hypophosphatemic rickets (XLH, OMIM# 307800) is a rare genetic metabolic
disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to …

Asia Pacific Consensus Recommendations on X Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

CF Munns, HW Yoo, MY Jalaludin… - Journal of Bone and …, 2023 - academic.oup.com
ABSTRACT X linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder
characterized by hypophosphatemia that occurs secondary to renal phosphate wasting …

X-linked hypophosphatemia: Management and treatment prospects

AS Lambert, V Zhukouskaya, A Rothenbuhler… - Joint Bone Spine, 2019 - Elsevier
Abstract X-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most
common genetic form of rickets and osteomalacia. Manifestations in children consist of …