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 …

[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 …

[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) …

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 …

[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 …

[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 …

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel, FH Glorieux, MP Whyte, CF Munns, LM Ward… - The Lancet, 2019 - thelancet.com
Background X-linked hypophosphataemia in children is characterised by elevated serum
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 …

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 …

A randomized, double‐blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked …

KL Insogna, K Briot, EA Imel… - Journal of Bone and …, 2018 - academic.oup.com
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 …