Results 51 to 60 of about 1,327 (129)

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

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, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos, RenalTubeGroup   +21 more
doaj   +1 more source

Item Response Theory Quantifies the Relationship Between Improvements in Serum Phosphate and Patient‐Reported Outcomes in Adults With X‐Linked Hypophosphatemia

Clinical Pharmacology &Therapeutics, Volume 116, Issue 5, Page 1343-1351, November 2024.
Burosumab is indicated for treatment of a rare bone disease, X‐linked hypophosphatemia (XLH). The aim of this analysis was to evaluate the relationship between a treatment response biomarker and patient‐reported outcomes (PROs). Longitudinal data for PROs were obtained from adults with XLH from a phase III study.
Krina Mehta, Nathalie H. Gosselin, Karl Insogna, Olivier Barriere, Emilia Quattrocchi, Matthew W. Hruska, Douglas Marsteller   +6 more
wiley   +1 more source

FGF23, Hypophosphatemia, and Emerging Treatments

JBMR Plus, 2019
FGF23 is an important hormonal regulator of phosphate homeostasis. Together with its co‐receptor Klotho, it modulates phosphate reabsorption and both 1α‐hydroxylation and 24‐hydroxylation in the renal proximal tubules.
Erik A Imel, Andrew Biggin, Aaron Schindeler, Craig F Munns   +3 more
doaj   +1 more source

Orthodontic treatment in children and adolescent patients with X‐linked hypophosphatemia: A case–control study

Orthodontics &Craniofacial Research, Volume 27, Issue 5, Page 697-703, October 2024.
Abstract Objectives X‐linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in ...
Yann Janssens, Martin Biosse Duplan, Agnès Linglart, Anya Rothenbuhler, Catherine Chaussain, Elvire Le Norcy   +5 more
wiley   +1 more source

Bone Hierarchical Structure: Heterogeneity and Uniformity

Advanced Functional Materials, Volume 34, Issue 35, August 28, 2024.
Bone has a complex hierarchical structure. Recently models of bone structure has improved significantly recently due to advances in advanced characterization methods. It is increasingly realized that while bone has uniformity in structural motifs there are also local heterogeneity. The importance of the heterogeneity and uniformity will be an important
Adrian Rodriguez‐Palomo, Maja Østergaard, Henrik Birkedal   +2 more
wiley   +1 more source

X-Linked Hypophosphatemia with Whole Aspects

Endocrinology Research and Practice
X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in the PHEX gene, and it is a primary example of a genetic cause of hypophosphatemia.
Nergis Basmaci, Alper Gürlek
doaj   +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, Henrique Massashi Soga, Fernanda Teresa de Lima, Amancio Ramalho Júnior, Cintia Giunchetti Strabelli Nascimento, Eduardo Juan Troster, Teresa Cristina Gomes Alfinito Vieira   +6 more
doaj   +2 more sources

Fibroblast growth factor 23 and calcium‐phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes

Journal of Diabetes, Volume 16, Issue 6, June 2024.
Highlights Serum calcium, phosphate, calcium‐phosphate product and alkaline phosphatase levels were significantly higher in adult patients with type 1 diabetes (T1D) than in controls and were positively correlated to fibroblast growth factor 23 (FGF23) in patients with T1D. FGF23 was higher in current smokers than in nonsmokers with T1D. These findings
Stephanie Vermeulen, Mirjam E. A. Scheffer‐Rath, Martine T. P. Besouw, Amarens van der Vaart, Martin H. de Borst, Annemieke M. Boot   +5 more
wiley   +1 more source

Biochemical evaluation of X-linked hypophosphatemia and tumor-induced osteomalacia: insights into diagnosis and management

Frontiers in Endocrinology
IntroductionX-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, Pilar Aguado Acín, Esteban Jodar Gimeno, Esteban Jodar Gimeno, Pilar Fernández Calle, Vanessa Lopes Martín, María Luisa González-Casaus   +6 more
doaj   +1 more source

Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives

Children
This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not ...
Tung-Hee Tie, Wei-Han Lin, Ming-Tung Huang, Po-Ting Wu, Meng-Che Tsai, Yen-Yin Chou, Chih-Kai Hong, Chii-Jeng Lin, Chien-An Shih   +8 more
doaj   +1 more source