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Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project
PurposeX-linked hypophosphatemia (XLH) is a rare multi-systemic disease characterized by low plasma phosphate levels. The aim of this study was to...
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Self-Administration of Burosumab in Children and Adults with X-Linked Hypophosphataemia in Two Open-Label, Single-Arm Clinical Studies
IntroductionX-linked hypophosphataemia (XLH) is a rare, genetic renal phosphate-wasting disease, resulting from excess fibroblast growth factor 23...
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Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high...
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Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK
BackgroundX-linked hypophosphataemia (XLH) is a rare genetic condition passed on through the X chromosome which causes multiple symptoms including...
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The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
BackgroundX-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological...
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Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review
SummaryThis systematic review collated evidence on the burden of XLH in adults. Data captured highlight the substantial ongoing burden of XLH in...
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Complications of Phosphate and Vitamin D Treatment in X-Linked Hypophosphataemia
Conventional treatment of X-linked hypophosphataemia (XLH) consists in the oral administration of phosphate plus calcitriol supplements. Although...
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Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review
SummaryX-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical evidence highlighting the long-term multi-organ...
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New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management
X-linked hypophosphataemia (XLH) is due to mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome ( PHEX ) and...
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Exploring the Burden of X-Linked Hypophosphataemia: An Opportunistic Qualitative Study of Patient Statements Generated During a Technology Appraisal
IntroductionCapturing the patient experience of living with a rare disease such as X-linked hypophosphataemia (XLH) is critical for a holistic...
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X-Linked Hypophosphataemic Rickets and Growth
X-linked hypophosphataemia (XLH) is the most prevalent form of hereditary rickets characterized by an alteration of phosphate metabolism which...
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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets,...
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Panel Discussion: Some Aspects of the Management of Patients with X-Linked Hypophosphataemic Rickets
X-linked hypophosphataemia (XLH) rickets is a rare disease frequently misdiagnosed and mismanaged. Despite having clinical guidelines that offers...
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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...
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Ipofosfatemia, diagnosi differenziale
Phosphataemia, often “forgotten” in the management of bone metabolism disorders, is finely regulated by several hormones and signals. PTH, FGF23,...
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Microindentation: A New Technique for Bone Quality Assessment
Fractures are the result of the application of a greater force on bone than its strength. Therefore, to understand fracture physiopathology, it is...
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FGF23: Is It Another Biomarker for Phosphate–Calcium Metabolism?
Fibroblast growth factor 23 (FGF23) is a protein produced by mature osteoblasts involved in mineral homeostasis by binding to its receptor complex...
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Systematic review of health related-quality of life in adults with osteogenesis imperfecta
BackgroundOsteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and...
