Results 21 to 30 of about 1,121 (157)

Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH)

Bone Reports
Many adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median ...
Annabel Nixon, Talat Mushtaq, Angela Williams   +2 more
exaly   +3 more sources

Adolescents’ experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth [PDF]

Orphanet Journal of Rare Diseases
Background X-linked hypophosphataemia (XLH) is a rare, genetic, phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23). Children experience skeletal abnormalities, pain and impaired health-related quality of life (HRQL).
Vrinda Saraff, Pedro Arango-Sancho, Justine Bacchetta, Annemieke M. Boot, Christine P. Burren, Amish Chinoy, Poonam Dharmaraj, Maria Amelia Gómez Llorente, Juan David González Rodríguez, Iva Gueorguieva, Wesley Hayes, Dirk Schnabel, Héctor Ríos Duro, Elin Haf Davies, Sandra Komarzynski, Angela J. Rylands, Kerry Sandilands, Haruka Ishii, Angela Williams, Santhani Selveindran, Adele Barlassina, Annabel Bowden, Agnès Linglart   +22 more
doaj   +2 more sources

Burosumab prevents further height deficit in toddlers affected by XLH [PDF]

Endocrine Connections
Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX variants. Besides rickets, XLH leads to disproportionately short stature, which develops during the first months of life.
Elisa Sala, Jugurtha Berkenou, Anya Rothenbuhler, Anne-Sophie Lambert, Christelle Audrain, Barbara Girerd, Marco Pitea, Stefano Mora, Agnès Linglart, Diana-Alexandra Ertl   +9 more
doaj   +2 more sources

Burosumab in infants with X-linked hypophosphatemic rickets: a case series [PDF]

Orphanet Journal of Rare Diseases
Background X-linked hypophosphatemic rickets (XLH) is a rare inherited metabolic bone disorder caused by excess fibroblast growth factor 23 (FGF23), leading to hypophosphatemia and rickets.
Ravit Regev, Avivit Brener, Nitzan Dror, Raphael Krespi, Rebeca Rapalino, Efrat Chorna, Ophir Borger, Adar Lopez, Yael Lebenthal, Leonid Zeitlin   +9 more
doaj   +2 more sources

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis. [PDF]

PLoS ONE
X-linked hypophosphataemia is a rare, genetic, lifelong disorder caused by phosphate-regulating endopeptidase homologue X-linked pathogenic variants and, if left untreated, is associated with a progressive accumulation of musculoskeletal manifestations ...
Vrinda Saraff, Pedro Arango Sancho, Justine Bacchetta, Annemieke M Boot, Christine Burren, Amish Chinoy, Poonam Dharmaraj, Maria Amelia Gómez Llorente, Juan David González Rodríguez, Iva Gueorguieva, Elin Haf Davies, Wesley Hayes, Sandra Komarzynski, Héctor Ríos Duro, Angela J Rylands, Kerry Sandilands, Angela Williams, Emily Hardie, Haruka Ishii, Dirk Schnabel, Santhani M Selveindran, Agnès Linglart   +21 more
doaj   +2 more sources

Real-world safety assessment of burosumab: a pharmacovigilance study utilizing the FDA adverse event reporting system [PDF]

Orphanet Journal of Rare Diseases
Objective This study aims to evaluate the adverse events (AEs) associated with burosumab in real-world clinical practice using data from the United States Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS), and to provide evidence ...
Tingting Chen, Min Liang
doaj   +2 more sources

X‐Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 685-700, May 2025.
ABSTRACT X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X‐linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae ...
Jessica L. Sandy, Andrew Biggin, Aris Siafarikas, Peter J. Simm, Christine P. Rodda, Craig F. Munns   +5 more
wiley   +5 more sources

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study [PDF]

Journal of Children's Orthopaedics
Purpose: X-linked hypophosphatemia is characterized by skeletal abnormalities, particularly lower limb angular deformities. Although burosumab has demonstrated short-term clinical improvements, its mid- to long-term effects on skeletal alignment remain ...
Hayeon Lim, Wonik Lee, Naye Choi, Yun Jeong Lee, Chang Ho Shin, Young Ah Lee, Jung Min Ko, Mi Hyun Song   +7 more
doaj   +2 more sources

Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia. [PDF]

Pediatr Discov
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y, Zhu G.   +6 more
europepmc   +2 more sources

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication. [PDF]

Intern Med J
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Ta B, Baddock S, Ludington J, Sheu A.
europepmc   +2 more sources