Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia.
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DOI: 10.1016/j.bone.2016.11.019
Abstract: Seven young patients with X-linked hypophosphatemia (XLH, having inactivating PHEX mutations) were discovered to accumulate osteopontin (OPN) at the sites of defective bone mineralization near osteocytes - the so-called hallmark periosteocytic (lacunar) "halos" of XLH.… read more here.
Keywords: xlh; bone; dento osseous; linked hypophosphatemia ... See more keywords
Tissue-specific mineralization defects in the periodontium of the Hyp mouse model of X-linked hypophosphatemia.
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DOI: 10.1016/j.bone.2017.07.026
Abstract: X-linked hypophosphatemia (XLH) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and hypophosphatemia, and impaired mineralization of bones and teeth. In the oral cavity, recent reports… read more here.
Keywords: xlh; cementum; tissue; bone ... See more keywords
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures
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DOI: 10.1177/0022034517728497
Abstract: X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and… read more here.
Keywords: xlh; dental pulp; linked hypophosphatemia; mineralization ... See more keywords
Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia
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DOI: 10.1210/jendso/bvac086
Abstract: Abstract The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH. However,… read more here.
Keywords: family; xlh; whole body; body whole ... See more keywords
An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac094
Abstract: Abstract Context X-linked hypophosphatemia (XLH) is a rare and progressive metabolic phosphate-wasting disorder characterized by lifelong musculoskeletal comorbidities. Despite considerable physical disability, there are currently no disease-specific physical therapy (PT) recommendations for XLH designed to… read more here.
Keywords: xlh; evidence based; physical therapy; study ... See more keywords
Altered Expression of Several Molecular Mediators of Cerebrospinal Fluid Production in Hyp Mice
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DOI: 10.1210/jendso/bvad022
Abstract: Abstract Context X-linked hypophosphatemia (XLH) is a genetic disease, causing life-long hypophosphatemia due to overproduction of fibroblast growth factor 23 (FGF23). XLH is associated with Chiari malformations, cranial synostosis, and syringomyelia. FGF23 signals through FGFR1c… read more here.
Keywords: production; hyp mice; xlh; csf production ... See more keywords
SUN-523 XLH Outcome Data from One Centre Experience with Burosumab
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DOI: 10.1210/js.2019-sun-523
Abstract: Abstract X-linked hypophosphataemia (XLH) is a rare, genetic, chronically debilitating and deformative bone disease that profoundly impacts the affected individual’s day-to-day functioning and quality of life. High levels of circulating fibroblast growth factor 23 (FGF23)… read more here.
Keywords: one centre; mmol; week; xlh ... See more keywords
Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)
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DOI: 10.3389/fendo.2020.00355
Abstract: Objectives: To assess the diagnostic potential of bidirectional axial transmission (BDAT) ultrasound, and high-resolution peripheral quantitative computed tomography (HR-pQCT) in X-linked hypophosphatemia (XLH, OMIM #307800), a rare genetic disorder of phosphate metabolism caused by mutations… read more here.
Keywords: xlh; velocity; xlh patients; bone ultrasound ... See more keywords