Article

The International X-Linked Hypophosphataemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

2023-01-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity.<bold> </bold>Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestati...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 294a086f-0149-5c37-9ffb-8f880293fc7f
DOI: 10.21203/rs.3.rs-2358387/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The International X-Linked Hypophosphataemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical dataDOI 10.21203/rs.3.rs-2358387/v1Read

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.Semantic proximity Read

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational studySemantic proximity Read

Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)Semantic proximity Read

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Semantic proximity Read

X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease.Semantic proximity Read

XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)Semantic proximity Read

Gathering 10 years of real-world FGF23-related hypophosphatemic rickets and osteomalacia data in GCC countries through a non-interventional registry: study protocol.Semantic proximity Read

The Metabolic Bone Disease X-Linked Hypophosphatemia: Case Presentation, Pathophysiology and PharmacologySemantic proximity Read

Adult Presentation of X-Linked HypophosphatemiaSemantic proximity Read

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.Semantic proximity Read

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.Semantic proximity Read

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing ProgramSemantic proximity Read