Results 51 to 60 of about 9,343 (245)

Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice. [PDF]

, 2014
Fibroblast growth factor 23 (FGF23) gain of function mutations can lead to autosomal dominant hypophosphatemic rickets (ADHR) disease onset at birth, or delayed onset following puberty or pregnancy. We previously demonstrated that the combination of iron
Albrecht, Marjorie, Allen, Matthew R., Bayt, Christine, Cass, Taryn A., Clinkenbeard, Erica L., Farrow, Emily G., Lahm, Tim, Peacock, Munro, Roberts, Jessica L., Summers, Lelia J., White, Kenneth E.   +10 more
core   +1 more source

Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia

Frontiers in Pediatrics, 2020
X-linked hypophosphatemia (XLH) causes significant burden in pediatric patients in spite of maintained treatment with phosphate supplements and vitamin D derivatives.
Silvia Martín Ramos, Marta Gil-Calvo, Virginia Roldán, Ana Castellano Martínez, Fernando Santos, Fernando Santos, Fernando Santos   +6 more
doaj   +1 more source

Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives

Frontiers in Endocrinology, 2023
X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D (“conventional therapy”)
Lothar Seefried, Martin Biosse Duplan, Martin Biosse Duplan, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward   +12 more
doaj   +1 more source

Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia [PDF]

, 2018
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some
Alan Sorani, Andreas Tridimas, Bahrami, Carpenter TO, Carpenter TO, Chong, Chong, Dixon, Durham, Econs, Fadil M. Hannan, Gaucher, gene, Goljanek-Whysall, Hannan, Hardy, Holm, Imel, Imel, Jagtap, Jiang, Kankaanpaa, Katarzyna Goljanek-Whysall, Makras, McWhorter, Melissa Sloman, Migeon, Nicki-Jayne Russell, Okan, Orstavik, Punzi, Quarles, Queiro, Rachel McCormick, Ritchlin, Sabbagh, Soriano-Arroquia, William D. Fraser, WJ   +38 more
core   +1 more source

Growth curves for children with X-linked hypophosphatemia [PDF]

Yearbook of Paediatric Endocrinology, 2019
Abstract Context We characterized linear growth in infants and children with X-linked hypophosphatemia (XLH). Objective Provide linear growth curves for children with XLH from birth to early adolescence.
Meng Mao, Thomas O Carpenter, Michael P Whyte, Alison Skrinar, Chao-Yin Chen, Javier San Martin, Alan D Rogol   +6 more
openaire   +2 more sources

Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature

International Journal of Implant Dentistry, 2019
Background X-linked hypophosphatemia is associated with a range of dental problems, many of which may result in early loss of the dentition. Most patients, but especially young adults, are likely to desire fixed prosthodontic replacements, and dental ...
Martin James, Reza Vahid Roudsari
doaj   +1 more source

Circulating αKlotho influences phosphate handling by controlling FGF23 production [PDF]

, 2012
The FGF23 coreceptor αKlotho (αKL) is expressed as a membrane-bound protein (mKL) that forms heteromeric complexes with FGF receptors (FGFRs) to initiate intracellular signaling.
Allen, Matthew R., Breyer, Matthew D, Broderick, Carol, Burr, David B., Cass, Taryn A, Clinkenbeard, Erica L., Farrow, Emily G, Guo, Qianxu, Kharitonenkov, Alexei, Ma, Y Linda, O'Bryan, Linda M, Roberts, Jessica L, Saha, Joy, Smith, Rosamund C, Summers, Lelia J, Sun, Haijun, White, Kenneth E, Wilson, Jonathan M, Zeng, Qing Qiang   +18 more
core   +1 more source

X-linked hypophosphatemia caused by the prevailing North American PHEX variant c.*231A\u3eG; exon 13–15 duplication is often misdiagnosed as ankylosing spondylitis and manifests in both men and women [PDF]

, 2022
Inactivating mutations of the gene coding for phosphate-regulating endopeptidase homolog X-linked (PHEX) cause X-linked hypophosphatemia (XLH).
Black, Margo, Dahir, Kathryn McCrystal, Gottesman, Gary S, Imel, Erik A, Mumm, Steven, Nichols, Cindy M, Whyte, Michael P   +6 more
core   +3 more sources

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
core   +2 more sources

Management of X-linked hypophosphatemia in adults

Metabolism, 2020
X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene which result in Fibroblast Growth Factor-23 (FG-F23) excess and phosphate wasting. Clinically, XLH children present with rickets, bone deformities and short stature. In adulthood, patients may still be symptomatic with bone and joint pain, osteomalacia-related fractures or ...
Lecoq, Anne-Lise, Brandi, Maria Luisa, Linglart, Agnès, Kamenický, Peter   +3 more
openaire   +3 more sources