Results 111 to 120 of about 7,235,288 (192)

Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children. [PDF]

J Endocr Soc, 2022
Nguyen-Khac V, Bonnet-Lebrun A, Linglart A, de Tienda M, Berkenou J, Mannes I, Adamsbaum C, Wicart P, Skalli W.   +8 more
europepmc   +1 more source

X-Linked Dominant Hypophosphatemic Rickets [PDF]

, 2020
openaire   +1 more source

Calcium Pyrophosphate Dihydrate Deposition Disease in Young Patients: Two Case Reports

The Turkish Journal of Gastroenterology, 2017
Calcium pyrophosphate deposition disease (CPDD) is a type of arthritis caused by the deposition of calcium pyrophosphate crystals, and may present as either acute or chronic arthritis.
Geetha WICKREMATILAKE
doaj  

A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.

, 2009
Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets.
양규현, 남지선, 이경아, 송재우, 최종락   +4 more
core  

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

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
core  

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

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription. [PDF]

Cell Death Dis, 2022
Gan YM, Zhang YP, Ruan DD, Huang JB, Zhu YB, Lin XF, Xiao XP, Cheng Q, Geng ZB, Liao LS, Tang FQ, Tang FQ, Luo JW.   +12 more
europepmc   +1 more source

Noncanonical Splice Site Disruption: +4 Intronic Variant in Phosphate-Regulating Endopeptidase Homolog, X-linked (PHEX Gene) Supported by In Silico Analysis in X-linked Hypophosphatemic Rickets. [PDF]

Cureus
Panqueba Arias CF, Rojas Rodriguez IK, Quero RI, Baez CC.   +3 more
europepmc   +1 more source

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report. [PDF]

Children (Basel)
Mitova N, Petkova-Ninova V, Popova Y.
europepmc   +1 more source