Results 81 to 90 of about 190,229 (170)

Radiographic dilemma of four systemic bone diseases: rickets, osteomalacia, renal osteodystrophy, and hypophosphatemic rickets [PDF]

Objectives: Rickets, osteomalacia, renal osteodystrophy, and hypophosphatemic rickets are systemic diseases that have the same characteristics, namely the condition of bone softening or weak bone conditions.
Epsilawat, Lusi, Rahasdini, Puri
core   +1 more source

X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant. [PDF]

Cureus
Larbi Ouassou K, Amale H, Abilkassem R.
europepmc   +1 more source

Phosphate: An Anion Controlling Metabolic Functions. [PDF]

Nutrients
Tarantino U, Greggi C, Gasperini B, Scimeca M, Iundusi R, Gasbarra E, Brandi ML.   +6 more
europepmc   +1 more source

X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case. [PDF]

Acta Neurochir (Wien)
Czarnetzki C, Mollica C, Buri J, Egervari K, Schaller K, Molliqaj G, Trombetti A, Nouri A, Tessitore E.   +8 more
europepmc   +1 more source

Familial hypophosphatemic rickets

, 2012
openaire   +1 more source

SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease. [PDF]

Orphanet J Rare Dis
Uçar A, Albader N, Qattan A, BinEssa HA, Özdemir EM, Özdemir M, Zou M, Alzahrani AS, Shi Y.   +8 more
europepmc   +1 more source

Autoimmune osteomalacia: a novel FGF23-related hypophosphatemic osteomalacia. [PDF]

J Bone Miner Metab
Hoshino Y, Ito N.
europepmc   +1 more source

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization. [PDF]

Orphanet J Rare Dis
Gan Z, Zheng M, Guo C, He F, Zheng Y, Li J, Li C, Yang F, Song Q, Chang Q, Liu Q, Xiong F, Xie H.   +12 more
europepmc   +1 more source

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review. [PDF]

Front Endocrinol (Lausanne)
Huang S, Lin A, Zhang N, He W, Huo Y, Wang C.   +5 more
europepmc   +1 more source

Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis. [PDF]

Urolithiasis
Paneque T, Berst K, Sambharia M, Swee M, Kimble M, Mansilla MA, Freese M, Thomas CP, Tracy CR, Steinberg RL.   +9 more
europepmc   +1 more source