Results 31 to 40 of about 7,727 (215)

Pathogenesis of FGF23-Related Hypophosphatemic Diseases Including X-linked Hypophosphatemia

Endocrines, 2022
Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which is mainly produced by osteocytes in bone, functions as the central regulator of phosphate ...
Tatsuro Nakanishi, Toshimi Michigami
doaj   +1 more source

Burosumab therapy in children with x-linked hypophosphatemia [PDF]

, 2018
BACKGROUND X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities.
Boot, Annemieke M, Carpenter, Thomas O, Chen, Chao-Yin, Hogler, Wolfgang, Imel, Erik A, Kakkis, Emil, Linglart, Agnes, Mao, Meng, Martin, Javier San, Padidela, Raja, Portale, Anthony A, Skrinar, Alison, van\u27t Hoff, William, Whyte, Michael P   +13 more
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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene

The Turkish Journal of Pediatrics, 2022
Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters.
Eda Çelebi Bitkin, Huri Sema Aymelek
doaj   +1 more source

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

"Hypercalciuric hypophosphatemic rickets " [PDF]

Acta Medica Iranica, 2001
A 13 year- old girl had rickets clinically evident sicne she was 10 years of age. She received multiple doses of vitamin D3 without improvement.This patient manifested an unusal form of hypophosphatemic rickets with hypercalciuria. It is recommended that
Karamifar H, Amirhakimi GH   +1 more
doaj   +1 more source

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]

, 2015
Objectives: The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary ...
Costa, F. W. G., Fonteles, C. S. R., Ribeiro, T. R., Soares, E. C. S., Williams, J. R., Jr.   +4 more
core   +1 more source

Rickets-vitamin D deficiency and dependency

Indian Journal of Endocrinology and Metabolism, 2012
Rickets is an important problem even in countries with adequate sun exposure. The causes of rickets/osteomalacia are varied and include nutritional deficiency, especially poor dietary intake of vitamin D and calcium.
Manisha Sahay, Rakesh Sahay
doaj   +1 more source

Systemic Control of Bone Homeostasis by FGF23 Signaling [PDF]

, 2016
The regulation of phosphate metabolism as an influence on bone homeostasis is profound. Recent advances in understanding the systemic control of Fibroblast growth factor-23 (FGF23) has uncovered novel effectors of endocrine feedback loops for calcium ...
Clinkenbeard, Erica L., White, Kenneth E.   +1 more
core   +1 more source

Hypophosphatemic rickets

Indian Journal of Endocrinology and Metabolism, 2012
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form ...
Varsha S Jagtap, Vijaya Sarathi, Anurag R Lila, Tushar Bandgar, Padmavathy Menon, Nalini S Shah   +5 more
doaj   +1 more source

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies [PDF]

, 2018
Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating
Burbelo, Christopher J. Romero, Daniela Egli-Spichtig, Emily Farrow, Farzana Perwad, Ichikawa, Lori C. Guthrie, Mary Scott Roberts, Michael J. Econs, Michael T. Collins, Peter D. Burbelo, Rachel I. Gafni, Shimada, Shoji Ichikawa, Uchida   +14 more
core   +1 more source