Results 101 to 110 of about 11,040 (189)

Deformity Correction in an Adult With Hypophosphatemic Rickets. [PDF]

Cureus
Mohabbat A, Alharbi SS, Muwanis MM.
europepmc   +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

Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia. [PDF]

Bone Rep, 2023
Soto Barros J, Braddock D, Carpenter TO.
europepmc   +1 more source

Epidermal nevus syndrome with hypophosphatemic rickets

Indian Journal of Endocrinology and Metabolism, 2020
Alpesh Goyal, Nishikant Damle, Devasenathipathy Kandasamy, Rajesh Khadgawat   +3 more
openaire   +3 more sources

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  

Burosumab in infants with X-linked hypophosphatemic rickets: a case series. [PDF]

Orphanet J Rare Dis
Regev R, Brener A, Dror N, Krespi R, Rapalino R, Chorna E, Borger O, Lopez A, Lebenthal Y, Zeitlin L.   +9 more
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

A case of autosomal dominant hypophosphatemic rickets. [PDF]

Clin Pediatr Endocrinol
Takishima S, Takasawa K, Matsuda N, Nakatani H, Kashimada K.   +4 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

Clinical and radiological outcomes of using locked intramedullary nails in the treatment of severe frontal plane lower limb deformity in adolescents with hypophosphatemic rickets (mid-term results). [PDF]

Arch Orthop Trauma Surg
Galal S, Al-Abri AM, Al-Habsi G, Al Ghammari M, Elissawi A, Abou Senna WG, Arafa AS.   +6 more
europepmc   +1 more source