Results 61 to 70 of about 1,327 (129)

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Case Reports in Dentistry, 2016
Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate ...
Gummadapu Sarat, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, Dharmavaram Ayesha Thabusum   +5 more
doaj   +1 more source

Impaired 1,25-dihydroxyvitamin D3 action underlies enthesopathy development in the Hyp mouse model of X-linked hypophosphatemia

JCI Insight, 2023
X-linked hypophosphatemia (XLH) is characterized by high serum fibroblast growth factor 23 (FGF23) levels, resulting in impaired 1,25-dihydroxyvitamin D3 (1,25D) production.
Rakshya Rana, Jiana T. Baker, Melissa Sorsby, Supriya Jagga, Shreya Venkat, Shaza Almardini, Eva S. Liu   +6 more
doaj   +1 more source

Challenging diagnosis and successful management of phosphaturic mesenchymal tumor mimicking ankylosing spondylitis: A case report

International Journal of Rheumatic Diseases, Volume 27, Issue 3, March 2024.
Yuan Zhang, Jiang Zhu, Xuemeng Chen, Ganping Bai, Yu Du, Qinghua Zou   +5 more
wiley   +1 more source

Case Report: Increased FGF23 and new insufficiency fractures at burosumab discontinuation in X-linked hypophosphatemia

Frontiers in Endocrinology
Burosumab, a monoclonal antibody that binds and inhibits FGF23 activity, was approved in 2018 for treatment of children and adults with X-linked hypophosphatemia (XLH), an X-linked dominant disorder due to increased serum fibroblast growth factor 23 ...
Robert Bandir, Laura Zanisi, Laura Zanisi, Marie Nicod-Lalonde, Elena Gonzalez-Rodriguez   +4 more
doaj   +1 more source

Sclerostin antibody improves alveolar bone quality in the Hyp mouse model of X-linked hypophosphatemia (XLH). [PDF]

Int J Oral Sci, 2023
Carpenter KA, Alkhatib DO, Dulion BA, Guirado E, Patel S, Chen Y, George A, Ross RD.   +7 more
europepmc   +1 more source

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data. [PDF]

Orphanet J Rare Dis, 2023
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mäkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC.   +19 more
europepmc   +1 more source

Dental health of pediatric patients with X-linked hypophosphatemia (XLH) after three years of burosumab therapy. [PDF]

Front Endocrinol (Lausanne), 2022
Brener R, Zeitlin L, Lebenthal Y, Brener A.   +3 more
europepmc   +1 more source

Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH). [PDF]

Orphanet J Rare Dis, 2022
Glorieux FH, Bonewald LF, Harvey NC, van der Meulen MCH.   +3 more
europepmc   +1 more source

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study. [PDF]

Front Endocrinol (Lausanne), 2022
Mindler GT, Stauffer A, Kranzl A, Penzkofer S, Ganger R, Radler C, Haeusler G, Raimann A.   +7 more
europepmc   +1 more source

Femoral anteversion (FNA) in individuals with X-linked hypophosphatemia (XLH)

Bone Reports, 2021
Matteo Scorcelletti, Serhan Kara, Lothar Seefried, Jochen Zange, Jörn Rittweger, Alex Ireland   +5 more
doaj   +1 more source