Search Results - "Jan De Beur, Suzanne"
-
1
High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects
Published in The journal of clinical endocrinology and metabolism (01-11-2021)“…Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic…”
Get full text
Journal Article -
2
A clinician's guide to X‐linked hypophosphatemia
Published in Journal of bone and mineral research (01-07-2011)“…X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and…”
Get full text
Journal Article -
3
Global guidance for the recognition, diagnosis, and management of tumor‐induced osteomalacia
Published in Journal of internal medicine (01-03-2023)“…Tumor‐induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 (FGF23). Patients…”
Get full text
Journal Article -
4
Burosumab Improves Patient-Reported Outcomes in Adults With Tumor-Induced Osteomalacia: Mixed-Methods Analysis
Published in Journal of bone and mineral research (01-11-2023)“…Tumor-induced osteomalacia (TIO) is an ultra-rare disease caused by tumors that secrete fibroblast growth factor 23, leading to chronic hypophosphatemia, poor…”
Get full text
Journal Article -
5
Fibroblast Growth Factor 23–Mediated Bone Disease
Published in Endocrinology and metabolism clinics of North America (01-03-2017)“…Fibroblast growth factor 23 ( FGF23 ) is an important regulator of phosphate and vitamin D metabolism and its excessive or insufficient production leads to a…”
Get full text
Journal Article -
6
Burosumab for the Treatment of Tumor‐Induced Osteomalacia
Published in Journal of bone and mineral research (01-04-2021)“…ABSTRACT Tumor‐induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is characterized by…”
Get full text
Journal Article -
7
Diabetic serum from older women increases adipogenic differentiation in mesenchymal stem cells
Published in Endocrine research (03-07-2018)“…Background: Paradoxically, elderly persons with type 2 diabetes mellitus (T2DM) fracture despite having higher bone density than nondiabetics. Systemic factors…”
Get full text
Journal Article -
8
Goal‐Directed Treatment for Osteoporosis: A Progress Report From the ASBMR‐NOF Working Group on Goal‐Directed Treatment for Osteoporosis
Published in Journal of bone and mineral research (01-01-2017)“…ABSTRACT The American Society for Bone and Mineral Research and the United States National Osteoporosis Foundation (NOF) formed a working group to develop…”
Get full text
Journal Article -
9
Challenges in the management of tumor-induced osteomalacia (TIO)
Published in Bone (New York, N.Y.) (01-11-2021)“…Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare acquired paraneoplastic disease, which is challenging to diagnose and treat…”
Get full text
Journal Article -
10
Working to Increase Stability through Exercise (WISE): screening, recruitment, and baseline characteristics
Published in Current controlled trials in cardiovascular medicine (15-11-2021)“…The aim of this paper is to describe the utility of various recruitment modalities utilized in the Working to Increase Stability through Exercise (WISE) study…”
Get full text
Journal Article -
11
Vaccination for Coronavirus Disease 2019 (COVID‐19) and Relationship to Osteoporosis Care: Current Evidence and Suggested Approaches
Published in Journal of bone and mineral research (01-06-2021)“…ABSTRACT The development of coronavirus disease 2019 (COVID‐19) vaccines has proceeded at an unprecedented pace, with numerous trials conducted simultaneously…”
Get full text
Journal Article -
12
Model‐Informed Approach to Recommend Burosumab Dosing Regimens for Pediatric and Adult Patients With the Ultrarare Disease Tumor‐Induced Osteomalacia
Published in Clinical pharmacology and therapeutics (01-12-2024)“…Burosumab is approved for the treatment of hypophosphatemia in persistent tumor‐induced osteomalacia. This work exemplifies a model‐informed drug development…”
Get full text
Journal Article -
13
Localisation of mesenchymal tumours by somatostatin receptor imaging
Published in The Lancet (British edition) (02-03-2002)“…Oncogenic osteomalacia, an acquired hypophosphataemic syndrome associated with mesenchymal tumours, is characterised by hypophosphataemia secondary to…”
Get full text
Journal Article -
14
Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the GC Gene
Published in The New England journal of medicine (27-06-2019)“…To the Editor: Henderson et al. (March 21 issue) 1 provide a detailed analysis of a 58-year-old woman with severe vitamin D deficiency related to vitamin…”
Get full text
Journal Article -
15
Reply to: Burosumab for Tumor‐Induced Osteomalacia: not Enough of a Good Thing
Published in Journal of bone and mineral research (01-12-2021)Get full text
Journal Article -
16
Tumor-Induced Osteomalacia
Published in JAMA (14-09-2005)“…Tumor-induced osteomalacia (TIO) is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia, a defect in vitamin D…”
Get full text
Journal Article Conference Proceeding -
17
Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension
Published in Rheumatic & musculoskeletal diseases open (01-09-2021)“…ObjectivesTo report the impact of burosumab on patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia (XLH) through…”
Get full text
Journal Article -
18
Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1
Published in American journal of human genetics (01-08-2003)“…Although the molecular basis of pseudohypoparathyroidism type 1b (PHP type 1b) remains unknown, a defect in imprinting at the GNAS1 locus has been suggested by…”
Get full text
Journal Article -
19
-
20
Working to Increase Stability through Exercise (WISE): Study protocol for a pragmatic randomized controlled trial of a coached exercise program to reduce serious fall-related injuries
Published in Contemporary clinical trials (01-11-2018)“…Approximately one-third of older adults fall each year and fall-related injuries are a leading cause of death and disability among this rapidly expanding age…”
Get full text
Journal Article