A clinician's guide to X‐linked hypophosphatemia
TO Carpenter, EA Imel, IA Holm… - Journal of Bone and …, 2011 - academic.oup.com
X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting,
and the most common form of heritable rickets. Physicians, patients, and support groups …
and the most common form of heritable rickets. Physicians, patients, and support groups …
[HTML][HTML] A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
S Ichikawa, EA Imel, ML Kreiter, X Yu… - The Journal of …, 2007 - Am Soc Clin Investig
Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia
due to inactivating mutations in FGF23 or UDP-N-acetyl-α-D-galactosamine: polypeptide N …
due to inactivating mutations in FGF23 or UDP-N-acetyl-α-D-galactosamine: polypeptide N …
[HTML][HTML] The changing face of hypophosphatemic disorders in the FGF-23 era
JY Lee, EA Imel - Pediatric endocrinology reviews: PER, 2013 - ncbi.nlm.nih.gov
In the past decade, research in genetic disorders of hypophosphatemia has significantly
expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) …
expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) …
Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects
Y Yamazaki, A Imura, I Urakawa, T Shimada… - Biochemical and …, 2010 - Elsevier
BACKGROUND: α-Klotho (αKl) regulates mineral metabolism such as calcium ion (Ca2+)
and inorganic phosphate (Pi) in circulation. Defects in mice result in clinical features …
and inorganic phosphate (Pi) in circulation. Defects in mice result in clinical features …
[HTML][HTML] Burosumab therapy in children with X-linked hypophosphatemia
TO Carpenter, MP Whyte, EA Imel… - … England Journal of …, 2018 - Mass Medical Soc
Background X-linked hypophosphatemia is characterized by increased secretion of
fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently …
fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently …
[HTML][HTML] FGF23 and associated disorders of phosphate wasting
A Gohil, EA Imel - Pediatric endocrinology reviews: PER, 2019 - ncbi.nlm.nih.gov
Abstract Fibroblast growth factor 23 (FGF23), one of the endocrine fibroblast growth factors,
is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its …
is a principal regulator in the maintenance of serum phosphorus concentration. Binding to its …
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
Background X-linked hypophosphataemia in children is characterised by elevated serum
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …
[HTML][HTML] Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
TO Carpenter, EA Imel, MD Ruppe… - The Journal of …, 2014 - Am Soc Clin Investig
Background. X-linked hypophosphatemia (XLH) is the most common heritable form of rickets
and osteomalacia. XLH-associated mutations in phosphate-regulating endopeptidase …
and osteomalacia. XLH-associated mutations in phosphate-regulating endopeptidase …
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
EA Imel, M Peacock, AK Gray… - The Journal of …, 2011 - academic.oup.com
Context: In autosomal dominant hypophosphatemic rickets (ADHR), fibroblast growth factor
23 (FGF23) resists cleavage, causing increased plasma FGF23 levels. The clinical …
23 (FGF23) resists cleavage, causing increased plasma FGF23 levels. The clinical …
A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …
In X‐linked hypophosphatemia (XLH), inherited loss‐of‐function mutations in the PHEX
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …
gene cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to …