O117 Burosumab in the management of X-linked hypophosphataemia: a retrospective cohort study reviewing anthropometric and biochemical markers
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DOI: 10.1093/bjs/znad101.117
Abstract: Rickets is a bone disease caused by a defect in mineralization. When left untreated, it has lifelong Orthopaedic sequelae. Burosumab, an anti-fibroblast growth factor 23 monoclonal antibody, improves rickets severity, symptoms, and growth in children… read more here.
Keywords: phosphate; phosphate concentration; growth; burosumab ... See more keywords
Clinical practice guidelines for paediatric X‐linked hypophosphataemia in the era of burosumab
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DOI: 10.1111/jpc.15976
Abstract: X‐linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such… read more here.
Keywords: era burosumab; burosumab; linked hypophosphataemia; clinical practice ... See more keywords
Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels
Sign Up to like & getrecommendations! Published in 2023 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2022-324962
Abstract: Background Burosumab, an antifibroblast growth factor 23 monoclonal antibody, improves rickets severity, symptoms and growth in children with X-linked hypophosphataemia (XLH) followed up to 64 weeks in clinical trials. International dosing guidance recommends targeting normal… read more here.
Keywords: phosphate; phosphate concentration; growth; burosumab ... See more keywords
Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment
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DOI: 10.1136/rmdopen-2022-002676
Abstract: Objectives To report the impact of continued burosumab treatment on clinical laboratory tests of efficacy, patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia who continued from a 96-week phase 3 study into… read more here.
Keywords: phosphate; function; ambulatory function; linked hypophosphataemia ... See more keywords
Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
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DOI: 10.3389/fgene.2022.792183
Abstract: X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550). However, mutations that… read more here.
Keywords: linked hypophosphataemia; mutation; mutation phex; chinese family ... See more keywords