Inherited fibroblast growth factor 23 excess
KE Cherian, TV Paul - Best Practice & Research Clinical Endocrinology & …, 2023 - Elsevier
Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide
spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and …
spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and …
X-Linked Hypophosphatemia: Does Targeted Therapy Modify Dental Impairment?
A Abdullah, SN Wuersching, M Kollmuss… - Journal of Clinical …, 2023 - mdpi.com
X-linked hypophosphatemia is a rare, hereditary disorder that significant influences teeth
and alveolar bone. The first clinical sign leading to the diagnosis of X-linked …
and alveolar bone. The first clinical sign leading to the diagnosis of X-linked …
Dental health of patients with X-linked hypophosphatemia: a controlled study
A Larsson, T Regnstrand, P Skott, O Mäkitie… - Frontiers in Oral …, 2023 - frontiersin.org
Objective The present study compared the dental health of patients with X-linked
hypophosphatemia (XLH) with healthy age-and gender-matched controls to increase our …
hypophosphatemia (XLH) with healthy age-and gender-matched controls to increase our …
The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat …
X Chen, C Cai, S Lun, Q Ye, W Pan, Y Chen… - Frontiers in …, 2023 - frontiersin.org
A Chinese family was identified to have two patients with rickets, an adult female and a male
child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH) …
child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH) …
A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype
M Borghi, LM Silva, L Bispo, CA Longui - Frontiers in Pediatrics, 2023 - frontiersin.org
Aim X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is
caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase …
caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase …
Transition of young adults with metabolic bone diseases to adult care
J Ross, MR Bowden, C Yu… - Frontiers in …, 2023 - frontiersin.org
As more accurate diagnostic tools and targeted therapies become increasingly available for
pediatric metabolic bone diseases, affected children have a better prognosis and …
pediatric metabolic bone diseases, affected children have a better prognosis and …
[HTML][HTML] A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
A Terracciano, ML De Bernardi, R Novizio… - … , Metabolic & Immune …, 2023 - ncbi.nlm.nih.gov
Background X-linked hypophosphatemia is the most prevalent form of heritable rickets,
characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked …
characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked …
Insights into the Molecular and Hormonal Regulation of Complications of X-Linked Hypophosphatemia
S Jagga, S Venkat, M Sorsby, ES Liu - Endocrines, 2023 - mdpi.com
X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading
to elevated serum levels of FGF23, decreased production of 1, 25 dihydroxyvitamin D3 (1 …
to elevated serum levels of FGF23, decreased production of 1, 25 dihydroxyvitamin D3 (1 …
[HTML][HTML] A case of severe X-linked hypophosphatemia caused by a novel PHEX mutation
MA Borges, M Costa, RB Baptista, AL Fitas… - Pediatric Oncall …, 2023 - pediatriconcall.com
A case of severe x-linked hypophosphatemia caused by a novel phex mutation | Pediatric
Oncall Journal Pediatric Oncall facebook twitter youtube instagram rss ISSN - 0973-0958 Home …
Oncall Journal Pediatric Oncall facebook twitter youtube instagram rss ISSN - 0973-0958 Home …