Results 51 to 60 of about 4,392 (235)

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

Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia. [PDF]

Calcif Tissue Int
Ito N, Kang HG, Michigami T, Namba N, Kubota T, Shintani A, Kawai R, Kabata D, Ishii H, Nishida Y, Fukumoto S, Ozono K.   +11 more
europepmc   +3 more sources

[Clinical value of renal phosphorus threshold in the diagnosis and treatment X-linked hypophosphatemic rickets in children]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Tao JQ, Chen Y.
europepmc   +3 more sources

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

Hypophosphatemic rickets: Revealing Novel Control Points for Phosphate Homeostasis [PDF]

, 2014
Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia.
Econs, Michael J., Hum, Julia M., White, Kenneth E.   +2 more
core   +1 more source

Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets. [PDF]

J Endocrinol Invest, 2023
Baroncelli GI, Sessa MR, Pelosini C, Bertelloni S, Michelucci A, Toschi B, Piaggi P, Peroni D, Comberiati P.   +8 more
europepmc   +3 more sources

The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
Context: We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could also have a bone mass deficit in the lower extremities.
Veilleux, Louis-Nicolas, Cheung, Moira S., Glorieux, Francis H., Rauch, Frank   +3 more
openaire   +2 more sources

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia [PDF]

, 2014
Background Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia in autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH). Iron status influences C-terminal FGF23 (incorporating fragments plus intact FGF23)
Econs, Michael J., Gray, Amie, Imel, Erik A., Padgett, Leah   +3 more
core   +1 more source

Tertiary Hyperparathyroidism in X-linked Hypophosphatemic Rickets.

Internal Medicine, 2000
We report a case of tertiary hyperparathyroidism in an X-linked familial hypophosphatemic rickets (XLH) patient under regular calcitriol and self-adjusted large doses of oral phosphate salt (2.4-3.6 g/day in 4-5 divided doses) according to his serum phosphate level.
C J, Wu, Y M, Song, W H, Sheu
openaire   +3 more sources

Rickets in Children: An Update

Biomedicines, 2021
Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly affecting longer bones. Despite the fact that preventive measures are available, it is still a common disease worldwide; nutritional rickets, due to vitamin D ...
Cristina Gentile, Francesco Chiarelli
doaj   +1 more source