[HTML][HTML] Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

S Giannini, ML Bianchi, D Rendina, P Massoletti… - Osteoporosis …, 2021 - Springer
X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical
evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and …

[HTML][HTML] Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries

F Al Juraibah, E Al Amiri, M Al Dubayee… - Archives of …, 2021 - Springer
Introduction X-linked hypophosphatemia (XLH) is a rare inherited cause of
hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate …

[HTML][HTML] Clinical and genetic characteristics of 153 Chinese patients with X-linked hypophosphatemia

X Lin, S Li, Z Zhang, H Yue - Frontiers in Cell and Developmental …, 2021 - frontiersin.org
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-
regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of …

[HTML][HTML] Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic …

Y Ishihara, Y Ohata, S Takeyari, T Kitaoka, M Fujiwara… - Bone, 2021 - Elsevier
X-linked hypophosphatemic rickets (XLH) is an inheritable type of rickets caused by
inactivating variants in the phosphate regulating endopeptidase homolog X-linked (PHEX) …

[HTML][HTML] Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

E Rodríguez-Rubio, H Gil-Peña, S Chocron… - Orphanet journal of rare …, 2021 - Springer
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 …

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults

N Tavana, K Thilakavathy… - Endokrynologia …, 2021 - journals.viamedica.pl
Hypophosphataemic rickets (HR) is a genetic disorder causing defects in the renal handling
of phosphorus, resulting in rickets. HR can be classified into two groups. First—those with …

[HTML][HTML] Genotype and phenotype analysis in X-linked hypophosphatemia

PG Park, SH Lim, HK Lee, YH Ahn, HI Cheong… - Frontiers in …, 2021 - frontiersin.org
Background: X-linked hypophosphatemia (XLH) is the most frequent form of
hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed …

[HTML][HTML] Impaired 1,25 dihydroxyvitamin D3 action and hypophosphatemia underlie the altered lacuno-canalicular remodeling observed in the Hyp mouse model of …

Y Yuan, S Jagga, JS Martins, R Rana, PD Pajevic… - PLoS …, 2021 - journals.plos.org
Osteocytes remodel the perilacunar matrix and canaliculi. X-linked hypophosphatemia
(XLH) is characterized by elevated serum levels of fibroblast growth factor 23 (FGF23) …

Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia

M Jimenez, D Ivanovic-Zuvic, C Loureiro… - Osteoporosis …, 2021 - Springer
We report the most comprehensive clinical and molecular characterization of XLH patients
performed in Chile. We show high prevalence of musculoskeletal burden and pain …

Presentation and non‐surgical endodontic treatment of two patients with X‐linked hypophosphatemia: a case report

H Bradley, A Dutta, R Philpott - International Endodontic …, 2021 - Wiley Online Library
Aim To describe two patients with X‐linked hypophosphatemia presenting with spontaneous
signs of pulpal necrosis in multiple intact teeth. The presentation and management are …