Results 61 to 70 of about 7,235,288 (192)
Endocrines, 2023 X-linked hypophosphatemic rickets/osteomalacia is an inherited disease caused by the loss of function in PHEX. Elevated plasma FGF23 in patients with XLH leads to hypophosphatemia.
Hiroaki Zukeran +3 more
doaj +1 more source
Pediatric Discovery, Volume 4, Issue 2, June 2026.This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Yue Xie +6 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT This case report highlights a rare occurrence of osteomalacia induced by hypophosphatemia secondary to ferric carboxymaltose (FCM) therapy in a patient with hereditary hemorrhagic telangiectasia (HHT, or Rendu‐Osler‐Weber syndrome). A 21‐year‐old man presented with left tibial pain without prior trauma, accompanied by severe hypophosphatemia ...
Ioannis S. Vasios +4 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 1, 15 January 2026.Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay +7 more
wiley +1 more source
X-linked hypophosphatemic rickets: case report with perspectives and challenges [PDF]
Einstein (São Paulo)X-linked dominant hypophosphatemic rickets (XLH) is a rare genetic disorder caused by mutations in the PHEX gene and characterized by chronic hypophosphatemia due to dysregulation of fibroblast growth factor 23 (FGF23).
Beatriz Almeida Ribeiro +6 more
doaj +2 more sources
Burosumab in Unidentifiable Tumor‐Induced Osteomalacia
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Yi Shan Der +5 more
wiley +1 more source
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
X‐Linked Hypophosphatemia Caused by a New Partial Insertion of LINE‐1 in the PHEX Gene
Human Mutation, Volume 2026, Issue 1, 2026.X‐linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth.
Dongmei Li +6 more
wiley +1 more source
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
, 2018 Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by
Xinfu Lin +3 more
core +1 more source