X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries. [PDF]
J Pediatr Genet, 2022 Deeb A +3 more
europepmc +3 more sources
X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment. [PDF]
Clin Case Rep, 2022 Bermeo Cabrera MJ +5 more
europepmc +2 more sources
A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
doaj +1 more source
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
Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets. [PDF]
JBMR PlusAlzoebie L +4 more
europepmc +3 more sources
Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density [PDF]
Asian Spine Journal, 2015 There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of X-linked hypophosphatemic rickets with cervical
Masato Shiba +3 more
doaj +1 more source
A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets [PDF]
Endocrinology and Metabolism, 2014 Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less ...
Yea Eun Kang +6 more
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 +13 more
core +2 more sources
X-linked Hypophosphatemic Rickets
Medical Archives, 2013 The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets.Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination.A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and ...
Mehmedali, Azemi +5 more
openaire +2 more sources
A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang +6 more
doaj +1 more source