1-3 of 3
Keywords: FGF23
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Hiroyuki Tanaka, Mayuko Tamura, Mirai Muto, Yuka Kinoshita, Nobuaki Ito, Akira Oka, Sachiko Kitanaka
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2025) 98 (3): 274–281.
https://doi.org/10.1159/000538388
Published Online: 15 March 2024
...Hiroyuki Tanaka; Mayuko Tamura; Mirai Muto; Yuka Kinoshita; Nobuaki Ito; Akira Oka; Sachiko Kitanaka Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is caused by pathogenic variants in the fibroblast growth factor 23 (FGF23) gene, which plays a key role in the regulation...
View article titled, A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient
Open the PDF for A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient in another window
Journal Articles

Rickets, Vitamin D, and Ca/P Metabolism

Free
Subject Area:
Endocrinology , Women's and Children's Health
Walter L. Miller, Erik A. Imel
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (6): 579–592.
https://doi.org/10.1159/000527011
Published Online: 29 November 2022
... PHEX gene in 1997. Autosomal dominant hypophosphatemic rickets similarly led to the discovery of FGF23, a phosphate-wasting humoral factor made in bone, in 2000, revolutionizing our understanding of phosphorus metabolism. 8 08 2022 10 08 2022 29 11 2022 © 2022 S. Karger AG, Basel...
View article titled, Rickets, Vitamin D, and Ca/P Metabolism
Open the PDF for Rickets, Vitamin D, and Ca/P Metabolism in another window
Journal Articles

Phosphate Handling: New Genes, New Molecules

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Dominique Prié, Pablo Ureña Torres, Gérard Friedlander
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2011) 76 (Suppl. 1): 71–75.
https://doi.org/10.1159/000329175
Published Online: 21 July 2011
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2011 NPT2c NHERF1 Phosphate transport FGF23 Klotho NPT2a Several lines of evidence indicate...
View article titled, Phosphate Handling: New Genes, New Molecules
Open the PDF for Phosphate Handling: New Genes, New Molecules in another window