Results 81 to 90 of about 4,812 (192)

Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?

Frontiers in Endocrinology, 2018
Fibroblast growth factor 23 (FGF23) is a phosphotropic hormone mainly produced by bone. FGF23 reduces serum phosphate by suppressing intestinal phosphate absorption through reducing 1,25-dihydroxyvitamin D and proximal tubular phosphate reabsorption ...
Seiji Fukumoto
doaj   +1 more source

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

Journal of Investigative Medicine High Impact Case Reports, 2015
Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR).
Kok Siong Poon BSc, Andrew Anjian Sng MBBS, MRCPCH, Cindy Weili Ho MBBS, MRCPCH, Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB, Kah Yin Loke MBBS, MRCP (UK), FRCPCH   +4 more
doaj   +1 more source

Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature [PDF]

, 2021
Background: Tumor-associated fibroblast growth factor 23 (FGF-23)-induced hypophosphatemic rickets is a rare but known pediatric entity first described in 1959. It results from local production of phosphatonins by benign and malignant mesenchymal tumors.
Baumhoer, Daniel, Krieg, Andreas, Rudin, Christoph, Burckhardt, Marie-Anne, Schifferli, Alexandra, Szinnai, Gabor   +5 more
core  

Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing.

, 1995
In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy.
Edwards-Brown, M K, Caldemeyer, K S, Edwards-Brown, Mary K., Smith, R R, Caldemeyer, Karen S., Smith, Richard R.   +5 more
core   +1 more source

Bilateral Pseudarthrosis of the Femoral Neck in a 25-Year-Old Male with Hereditary Hypophosphatemic Rickets

Case Reports in Orthopedics, 2014
Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis ...
Joris Anthonissen, Christian Ossendorf, Thomas Vetter, Björn Habermann, Pol M. Rommens   +4 more
doaj   +1 more source

Clinical data and biochemical results of four patients with hypophosphatemic rickets from two Indian families.

, 2015
Clinical data and biochemical results of four patients with hypophosphatemic rickets from two Indian families.
Sidharth K. Sethi (759840), Sara L. Ma (759837), Matthew G. Sampson (486487), Virginia Vega-Warner (267776), Christopher Gillies (759838), Vijay Kher (759839), Edgar A. Otto (267795)   +6 more
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Hypophosphatemic Rickets: A New Mutation

, 2018
Introduction: Phosphopenic rickets is characterized by hypophosphatemia with hyperphosphaturia, normal calcemia and normal or mildly elevated PTH. This pathology may be caused by mutations in PHEX gene (phosphate regulating endopeptidase homolog X-linked)
Sousa, H, Maio, P, Freixo, J, Mano, L, Abranches, M, Rocha, S, Francisco, T   +6 more
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Familial hypophosphatemic rickets: report of a case

, 2016
Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance.
Taralan Tambunan, Edi S Tehuteru
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Dental Problems in Hypophosphatemic Rickets, a Cross Sectional Study

, 2013
Objective: Hypophosphatemic rickets is an uncommon metabolic bone disorder which affects all ages and both sexes. It is characterized by low concentration of serum phosphate levels, impairment of mineralization of bone matrix and teeth with variable ...
Rahmani, Parisa, Ziaee, Vahid, Ghodoosi, Sharareh, Rabbani, Ali   +3 more
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A PAI‐1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D‐resistant rickets model mouse

FEBS Open Bio
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23.
Cheng Qian, Nobuaki Ito, Kunikazu Tsuji, Shingo Sato, Katsushi Kikuchi, Toshitaka Yoshii, Toshio Miyata, Yoshinori Asou   +7 more
doaj   +1 more source