Results 11 to 20 of about 2,648 (201)

Burosumab prevents further height deficit in toddlers affected by XLH

Endocrine Connections
Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX variants. Besides rickets, XLH leads to disproportionately short stature, which develops during the first months of life.
Elisa Sala, Jugurtha Berkenou, Anya Rothenbuhler, Anne-Sophie Lambert, Christelle Audrain, Barbara Girerd, Marco Pitea, Stefano Mora, Agnès Linglart, Diana-Alexandra Ertl   +9 more
doaj   +5 more sources

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study [PDF]

Orphanet Journal of Rare Diseases, 2020
Background X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of ...
Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal   +11 more
doaj   +2 more sources

Femoral anteversion (FNA) in individuals with X-linked hypophosphatemia (XLH) [PDF]

Bone Reports, 2021
Background/Introduction: XLH is a rare genetic condition which affects phosphate metabolism, resulting in osteomalacia. Individuals with XLH are also at risk of lower limb deformities and early onset of hip osteoarthritis.
Zange, Jochen, Rittweger, Jörn, Kara, Serhan, Scorcelletti, Matteo   +3 more
core   +4 more sources

MAPK inhibition and growth hormone: a promising therapy in XLH [PDF]

The FASEB Journal, 2019
X-linked hypophosphatemia (XLH) leads to growth retardation and bone deformities, which are not fully avoided by conventional treatment with phosphate and vitamin D analogs.
Fuente, Rocío, Santos Rodríguez, Fernando, Anes-González, Gonzalo, Wagner, C., Rubio-Aliaga, Isabel, Fuente Pérez, Rocío, Rodríguez-Rubio, Enrique, Santos, Fernando, Wagner, Carsten, Anes González, Gonzalo, Hernández-Frías, Olaya, Fernández Iglesias, Ángela, Gil-Peña, Helena, Alonso-Durán, Laura, Hernández Frías, Olaya, Rubio Aliaga, Isabel, Claramunt-Taberner, Débora, Gil Peña, Helena, Rodríguez Rubio, Enrique, Hermida-Prado, Francisco, Claramunt Taberner, Debora, Hermida Prado, Francisco José, Fernández-Iglesias, Ángela, Alonso Durán, Laura   +23 more
core   +5 more sources

Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH) [PDF]

Frontiers in Endocrinology, 2020
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 ...
Adalbert Raimann, Sarah N. Mehany, Patricia Feil, Michael Weber, Peter Pietschmann, Andrea Boni-Mikats, Radka Klepochova, Martin Krššák, Martin Krššák, Martin Krššák, Gabriele Häusler, Johannes Schneider, Janina M. Patsch, Janina M. Patsch, Kay Raum   +14 more
doaj   +2 more sources

Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description [PDF]

Therapeutic Advances in Chronic Disease, 2022
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH) 2 D) synthesis.
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, M. Zulf Mughal   +18 more
doaj   +4 more sources

Young XLH Patients-Reported Experience with a Supportive Care Program

Patient Preference and Adherence, 2023
Anya Rothenbuhler,1 Iva Gueorguieva,2 Lydia Lichtenberger-Geslin,3 Christelle Audrain,1 Sylvie Soskin,4 Candace Bensignor,5 Sylvie Rossignol,4 Aurélia Bertholet-Thomas,6 Lorelei Naudeau,7 Justine Bacchetta,6 Agnès Linglart1,8 1AP-HP, INSERM ...
Rothenbuhler A, Gueorguieva I, Lichtenberger-Geslin L, Audrain C, Soskin S, Bensignor C, Rossignol S, Bertholet-Thomas A, Naudeau L, Bacchetta J, Linglart A   +10 more
doaj   +4 more sources

Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia. [PDF]

Pediatr Discov
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y, Zhu G.   +6 more
europepmc   +2 more sources

Phenotypes of a family with XLH with a novel PHEX mutation [PDF]

Human Genome Variation, 2020
AbstractX-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly.
Akiko Yamamoto, Toshiro Nakamura, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono   +4 more
openaire   +2 more sources

Wnt pathway inhibitors are upregulated in XLH dental pulp cells in response to odontogenic differentiation

International Journal of Oral Science, 2023
X-linked hypophosphatemia (XLH) represents the most common form of familial hypophosphatemia. Although significant advances have been made in the treatment of bone pathology, patients undergoing therapy continue to experience significantly decreased oral
Elizabeth Guirado, Cassandra Villani, Adrienn Petho, Yinghua Chen, Mark Maienschein-Cline, Zhengdeng Lei, Nina Los, Anne George   +7 more
doaj   +1 more source