Results 81 to 90 of about 2,648 (201)

Plain language summary of the first findings from the International X-Linked Hypophosphatemia (XLH) Registry

Plain Language Summary: What is this summary about? X-linked hypophosphatemia (XLH for short) is a rare genetic condition in which people have low levels of phosphate in their blood.
Levtchenko E., Giannini S., Mäkitie O., Nilsson O., de Lucas Collantes C., Giannini, Sandro, Brandi, Maria Luisa, Emma, Francesco, Mäkitie, Outi, Williams, Angela, Brandi M. L., Zillikens, M. Carola, Emma F., Briot K., Keen, Richard, Ariceta, Gema, Schnabel D., Williams A., Beck‐Nielsen S. S., Tripto‐Shkolnik L., Mughal M. Z., Schnabel, Dirk, Haffner D., Ariceta G., de Lucas Collantes, Carmen, Zillikens M. C., Levtchenko, Elena, Nilsson, Ola, Tripto‑Shkolnik, Liana, Boot A. M., Beck‑Nielsen, Signe Sparre, Keen R., Haffner, Dieter, Briot, Karine, Mughal, M. Zulf, Boot, Annemieke M.   +35 more
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Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)

, 2022
In recent years, much progress has been made in understanding the mechanisms of bone growth and development over a lifespan, including the crosstalk between muscle and bone, to achieve optimal structure and function.
Harvey, Nicholas, Glorieux, Francis H., van der Meulen , Marjolein C. H., Bonewald, Lynda F., Harvey, Nicholas C., van der Meulen, Marjolein C H, van der Meulen, Marjolein C. H.   +6 more
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XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

Orphanet Journal of Rare Diseases, 2023
Seefried, Lothar, Alzahrani, Ali, Arango Sancho, Pedro, Bacchetta, Justine, Crowley, Rachel, Emma, Francesco, Gibbins, Jonathan, Grandone, Anna, Javaid, Muhammad Kassim, Mindler, Gabriel, Raimann, Adalbert, Rothenbuhler, Anya, Tucker, Ian, Zeitlin, Leonid, Linglart, Agnès   +14 more
openaire   +3 more sources

Dental Management of Children with X-Linked Hypophosphatemia (XLH): A scoping review and exploration of patient-reported outcome measure (PROM) [PDF]

Introduction: X-Linked Hypophosphatemia (XLH) is a genetic multisystem disorder, characterised by low levels of phosphate in the blood causing distinctive skeletal and dental manifestations.// Aims and objectives: The aim was to review medical and ...
Al-Otaibi, Basmah
core   +1 more source

Sclerostin inhibition in rare bone diseases: Molecular understanding and therapeutic perspectives

Journal of Orthopaedic Translation
Sclerostin emerges as a novel target for bone anabolic therapy in bone diseases. Osteogenesis imperfecta (OI) and X-linked hypophosphatemia (XLH) are rare bone diseases in which therapeutic potential of sclerostin inhibition cannot be ignored.
Tao Xiaohui, Luyao Wang, Xin Yang, Hewen Jiang, Ning Zhang, Huarui Zhang, Dijie Li, Xiaofei Li, Yihao Zhang, Shenghang Wang, Chuanxin Zhong, Sifan Yu, Meishen Ren, Meiheng Sun, Nanxi Li, Tienan Chen, Yuan Ma, Fangfei Li, Jin Liu, Yuanyuan Yu, Hua Yue, Zhenlin Zhang, Ge Zhang   +22 more
doaj   +1 more source

Summary of the role of the MEPE-derived ASARM peptide in the etiology of tooth dentin abnormalities in XLH patients.

, 2013
A: SIBLING proteins containing the ASARM peptide are processed by a multitude of proteolytic enzymes, some of which may release the ASARM peptide or larger protein fragments containing the ASARM peptide into the extracellular matrix (ECM).
Eric Huet (381328), Catherine Chaussain (381332), Benjamin Salmon (381317), Brigitte Baroukh (381322), Anne Poliard (381326), Peter S. Rowe (381327), Antonino Nicoletti (268886), Benjamin R. Coyac (381321), Julie Lesieur (381323), Marc D. McKee (381331), Claire Bardet (381318), Mayssam Khaddam (381319), Jiar Naji (381320), Dominique Le Denmat (381325), Franck Letourneur (169841), Franck Decup (381324), Sibylle Opsahl Vital (381329), Agnès Linglart (381330)   +17 more
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SUN-757 Sustained Improvements in Patient-Reported Outcomes Across Age Groups in Burosumab-Treated X-linked Hypophosphatemia (XLH): Results From the XLH Disease Monitoring Program [PDF]

Introduction: Burosumab, a fully human FGF23-neutralizing antibody, improved outcomes in adults and children with X-linked hypophosphatemia (XLH) in 24- and 64-week randomized controlled trials, respectively. This analysis describes real-world changes in
Li, Jerry, Simmons, Jill, Carpenter, Thomas O., Yang, Erru, Cassinelli, Hamilton, Florenzano, Pablo F., Heerssen, Heather Marie, Khan, Aliya Aziz, Johnson, Ben, Ward, Leanne Marie, Imel, Erik Allen   +10 more
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X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab

Orphanet Journal of Rare Diseases
Hypophosphatemia presents with highly variable clinical manifestations. Among the identified hypophosphatemic disorders, X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are caused by persistent excess fibroblast growth factor 23 ...
Maria Luisa Brandi, Cristina Eller Vainicher, Danilo Fintini, Andrea Giusti, Andrea Magnolato, Salvatore Minisola, Sandro Giannini   +6 more
doaj   +1 more source

Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography.

PLoS ONE
BackgroundX-linked hypophosphatemia (XLH) is the most common inherited form of rickets. The presence of sequence variations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene is associated with increased production of fibroblast ...
Rena Okawa, Misato Takagi, Takashi Nakamoto, Naoya Kakimoto, Kazuhiko Nakano   +4 more
doaj   +1 more source

The Role of GDF5 in Regulating Enthesopathy Development in the Hyp Mouse Model of XLH

X-linked hypophosphatemia (XLH) is caused by mutations in PHEX, leading to rickets and osteomalacia. Adults affected with XLH develop a mineralization of the bone-tendon attachment site (enthesis), called enthesopathy, which causes significant pain and ...
Alayyat, Ahmad, Venkat, Shreya, Rosen, Vicki, Rana, Rakshya, Baker, Jiana, Sorsby, Melissa, Hughes, Ashleigh, Rahman, Mansoor, Almardini, Shaza, Liu, Eva S   +9 more
core   +1 more source