Results 111 to 120 of about 1,955 (223)

Effect of burosumab on muscle function and strength, and rates of ATP synthesis in skeletal muscle in adults with X-linked Hypophosphatemia

, 2023
Karl Insogna, Rebecca Sullivan, Stephen Parziale, Yanhong Deng, Diana Carrano, Sylvie Dufor, Thomas O. Carpenter, Kitt Falk Petersen   +7 more
openalex   +1 more source

Providing Australian children and adolescents with equitable access to new and emerging therapies through clinical trials: a call to action

Medical Journal of Australia, Volume 220, Issue 3, Page 121-125, February 2024.
Michelle S Lorentzos, David Metz, Andrew S Moore, Laura K Fawcett, Paula Bray, Lani Attwood, Craig F Munns, Andrew Davidson   +7 more
wiley   +1 more source

Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

Molecular Genetics & Genomic Medicine
Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency.
Maria Helena Vaisbich, Antônio César Paulillo deCillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino deCarvalho, Juliana M. C. M. deAlmeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. daSilva, Paula Frassinetti V. deMedeiros, Pedro Henrique Mendes   +10 more
doaj   +1 more source

Consideration of a family case of X-linked hypophosphatemia through the prism of modern diagnostic and treatment methods

Počki
Background. X-linked hypophosphatemia is the most common form of hereditary vitamin D-resistant rickets. Today, there is a late diagnosis, later treatment start and a significant deterioration in the quality of life of patients with X-linked ...
L.I. Vakulenko
doaj   +1 more source

AB0922 BUROSUMAB (ANTI-FGF23 MONOCLONAL ANTIBODY) IN THE TREATMENT OF A PATIENT WITH RECURRENT TUMOR INDUCED OSTEOMALACIA. [PDF]

, 2020
Chiara Crotti, F. Zucchi, P. Messa, Roberto Caporali, M. Varenna   +4 more
openalex   +1 more source

Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia

Frontiers in Endocrinology
ObjectiveThe aim of this study was to evaluate the effectiveness of burosumab therapy in children with X-Linked Hypophosphatemia (XLH).Materials and methodsWe systematically reviewed literature from PubMed, Web of Science, The Cochrane Library, and ...
Kangning Wang, Runze Zhang, Ziyi Chen, Yi Bai, Qing He   +4 more
doaj   +1 more source

Dental Management of Children with X-Linked Hypophosphatemia (XLH): A scoping review and exploration of patient-reported outcome measure (PROM) [PDF]

Introduction: X-Linked Hypophosphatemia (XLH) is a genetic multisystem disorder, characterised by low levels of phosphate in the blood causing distinctive skeletal and dental manifestations.// Aims and objectives: The aim was to review medical and ...
Al-Otaibi, Basmah
core  

The importance of early diagnosis of X-linked hypophosphatemic rickets: a case report

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of
Francesca Franchina, Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica   +5 more
doaj   +1 more source

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients [PDF]

X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of
Appelman-Dijkstra, N. M., Boot, A. M., Bosman, A., Bökenkamp, A., de Borst, M. H., de Jongh, R. T., van de Ven, A. C., van den Bergh, J. P., van der Eerden, B. C.J., Zillikens, M. C.   +9 more
core   +1 more source

Different Efficacy of Burosumab on Physical Performance and Serum Phosphate in Adult Patients with X-Linked Hyphophosphatemic Rickets during the First Six-Month of Treatment [PDF]

, 2023
Teresa Arcidiacono, Nadia Edvige Foligno, Elena Brioni, Arianna Bologna, Giovanna Weber, Stefano Mora, Marco Pitea, Corrado Vitale, Giuseppe Vezzoli   +8 more
openalex   +1 more source