Editorial: Emerging therapies for metabolic bone diseases. [PDF]
Front Endocrinol (Lausanne)Falchetti A, Gennari L.
europepmc +1 more source
Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth. [PDF]
Orphanet J Rare DisSaraff V +22 more
europepmc +1 more source
International Journal of Molecular SciencesX-linked hypophosphatemia (XLH) is a rare genetic disorder that increases fibroblast growth factor 23 (FGF23). XLH patients have an elevated risk of early-onset hypertension. The precise factors contributing to hypertension in XLH patients have yet to be
Agustín Lahoz +2 more
exaly +7 more sources
The ankle in XLH: Reduced motion, power and quality of life
Frontiers in Endocrinology, 2023 BackgroundX-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life.
Alexandra Stauffer +2 more
exaly +4 more sources
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH) [PDF]
Human Mutation, 2022 X‐linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X‐linked pattern with complete penetrance observed for both males
Yves Sabbagh, Erik A Imel
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Die X-Chromosomale Hypophosphatämie – XLH
Osteologie, 2018ZusammenfassungBei der X-chromosomalen Hypophosphatämischen Rachitis (XLH) handelt es sich um eine seltene, aber mit einer Prävalenz von 1 : 20 000 gleichzeitig die häufigste genetisch bedingte Phosphatverlusterkrankung. Ursächlich sind Veränderungen im PHEX-Gen (Phosphate Regulating Endopeptidase Homolog, X-linked) auf dem X-Chromosom.
Lothar Seefried, F Genest
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PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease
Genes, 2022 Phex(L222P) mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. Phex(L222P) mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased ...
Florent Di Meo +2 more
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X-linked hypophosphatemic osteomalacia (XLH): Study of 5 adult patients
Medicina Clínica (English Edition), 2023X-linked hypophosphatemic osteomalacia (XLH) is an inherited disorder that can cause highly disabling musculoskeletal comorbidities in adulthood.To analyze the clinical-radiological characteristics, comorbidities and complications associated with the disease and treatment in an adult population with XLH.Retrospective study of patients treated for XLH ...
Pilar Peris
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Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK [PDF]
Calcified Tissue InternationalX-linked hypophosphataemia (XLH) is a genetic phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23), which leads to skeletal morbidities, pain, stiffness, and impairments in physical function and health-related quality of life ...
Judith Bubbear +2 more
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Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH)
Journal of Structural Biology, 2020X-linked hypophosphatemia (XLH) caused by PHEX mutations results in elevated serum FGF23 levels, renal phosphate wasting and low 1,25-dihydroxyvitamin D. The glycophosphoprotein osteopontin, a potent inhibitor of mineralization normally degraded by PHEX, accumulates within the bone matrix.
Stéphane Blouin +2 more
exaly +4 more sources