Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study [PDF]
BiomedicinesBackground: X-linked hypophosphatemia (XLH) is a rare disorder characterized by elevated levels of fibroblast growth factor 23 (FGF-23), leading to hypophosphatemia and complications in diagnosis due to its clinical heterogeneity.
Luis Carlos López-Romero +4 more
doaj +4 more sources
Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia
JBMR Plus, 2022 X‐linked hypophosphatemia (XLH) is a rare genetic disorder that disrupts skeletal and dental mineralization. In addition to rickets in children, XLH patients also have frequent spontaneous dental abscesses that increase the risk of tooth loss and may ...
Margaux Gadion +8 more
doaj +2 more sources
Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review [PDF]
JBMR Plus, 2023 Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is
Craig F Munns +4 more
doaj +2 more sources
Burosumab Therapy in Children with X-Linked Hypophosphatemia [PDF]
New England Journal of Medicine, 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.
Thomas O Carpenter +2 more
exaly +4 more sources
Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management [PDF]
Frontiers in EndocrinologyIntroductionX-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are characterized by alterations in phosphate metabolism due to elevated levels of fibroblast growth factor 23 (FGF23).
Jorge Díaz-Garzón Marco +6 more
doaj +2 more sources
Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia [PDF]
Endocrine Connections, 2020 Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between h ypophosphatemia and obesity in general population. The aim of our longitudinal observational study was
Volha V Zhukouskaya +11 more
doaj +2 more sources
X-linked hypophosphatemia and growth [PDF]
, 2017 PDF formato impresiónX-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene.
Rocío Fuente +7 more
openalex +4 more sources
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population [PDF]
Orphanet Journal of Rare Diseases, 2021 Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate.
Enrique Rodríguez-Rubio +21 more
doaj +2 more sources
Dental health of patients with X-linked hypophosphatemia: A controlled study [PDF]
Frontiers in Oral Health, 2023 ObjectiveThe present study compared the dental health of patients with X-linked hypophosphatemia (XLH) with healthy age- and gender-matched controls to increase our knowledge of the impact of XLH on oral health.Materials and methodsTwenty-two adult ...
Amila Larsson +10 more
doaj +2 more sources
Outcome of adult patients with X‐linked hypophosphatemia caused by PHEX gene mutations [PDF]
, 2018 X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Douglas Chesher +11 more
openalex +4 more sources