Approach to patients with hypophosphataemia

P Florenzano, C Cipriani, KL Roszko… - The Lancet Diabetes & …, 2020 - thelancet.com
Phosphate metabolism is an evolving area of basic and clinical research. In the past 15
years, knowledge on disturbances of phosphate homoeostasis has expanded, as has the …

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

S Sarafrazi, SC Daugherty, N Miller, P Boada… - Human …, 2022 - Wiley Online Library
Abstract X‐linked hypophosphatemia (XLH), the most common form of hereditary
hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X …

Approach to hypophosphatemic rickets

SA Ackah, EA Imel - The Journal of Clinical Endocrinology & …, 2023 - academic.oup.com
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal
deformities and growth plate abnormalities. The most common causes are genetic (such as …

X-linked hypophosphatemia: a new era in management

K Dahir, MS Roberts, S Krolczyk… - Journal of the …, 2020 - academic.oup.com
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal
disease that often causes pain and short stature, as well as decreased physical function …

[HTML][HTML] FGF23 and associated disorders of phosphate wasting

A Gohil, EA Imel - Pediatric endocrinology reviews: PER, 2019 - ncbi.nlm.nih.gov
Abstract Fibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors,
is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its …

Hypophosphatemic rickets

M Bitzan, PR Goodyer - Pediatric Clinics, 2019 - pediatric.theclinics.com
The endocrinologist Fuller Albright has been credited with the first description of
hypophosphatemic rickets (HR) that failed to respond to high doses of vitamin D. The …

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and …

K Briot, AA Portale, ML Brandi, TO Carpenter… - RMD open, 2021 - rmdopen.bmj.com
Objectives To report the impact of burosumab on patient-reported outcomes (PROs) and
ambulatory function in adults with X-linked hypophosphataemia (XLH) through 96 weeks …

Clinical evidence for the benefits of burosumab therapy for X-linked hypophosphatemia (XLH) and other conditions in adults and children

A Schindeler, A Biggin, CF Munns - Frontiers in Endocrinology, 2020 - frontiersin.org
Burosumab (KRN23) is an FGF23 neutralizing antibody that has been the subject of several
recent clinical trials principally focused on the treatment of hypophosphatemic rickets in …

Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia

C Zhang, Z Zhao, Y Sun, L Xu, R JiaJue, L Cui, Q Pang… - Bone, 2019 - Elsevier
X-linked Hypophosphatemia (XLH) is caused by loss of function mutations in the PHEX
gene. Given the recent availability of a new therapy for XLH, a retrospective analysis of the …

Interactions between FGF23 and vitamin D

MS Razzaque - Endocrine Connections, 2022 - ec.bioscientifica.com
Fibroblast growth factor‐23 (FGF23) controls the homeostasis of both phosphate and vitamin
D. Bone-derived FGF23 can suppress the transcription of 1α‐hydroxylase (1α (OH) ase) to …