Results 31 to 40 of about 1,327 (129)

Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

Bone Reports, 2016
X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth factor 23
Mary D. Ruppe, Xiaoping Zhang, Erik A. Imel, Thomas J. Weber, Mark A. Klausner, Takahiro Ito, Maria Vergeire, Jeffrey S. Humphrey, Francis H. Glorieux, Anthony A. Portale, Karl Insogna, Munro Peacock, Thomas O. Carpenter   +12 more
doaj   +1 more source

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia

JCRPE, 2022
X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule.
Ana Castellano-Martinez, Silvia Acuñas-soto, Virginia Roldan-cano, Moises Rodriguez-Gonzalez   +3 more
doaj   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Health-related quality of life of X-linked hypophosphatemia in Spain

Orphanet Journal of Rare Diseases, 2022
Plain English summary X-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affectingX-linked hypophosphatemia (XLH) is a severe inherited disease.
M. I. Luis Yanes, M. Diaz-Curiel, P. Peris, C. Vicente, S. Marin, M. Ramon-Krauel, J. Hernandez, J. J. Broseta, L. Espinosa, S. Mendizabal, L. Perez-Sukia, V. Martínez, C. Palazón, J. A. Piñero, M. A. Calleja, J. Espin, R. Arborio-Pinel, G. Ariceta   +17 more
doaj   +1 more source

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication

Internal Medicine Journal, Volume 56, Issue 9, Page 1500-1509, September 2026.
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Brenda Ta, Stephanie Baddock, Jane Ludington, Angela Sheu   +3 more
wiley   +1 more source

Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia

Frontiers in Pediatrics, 2020
X-linked hypophosphatemia (XLH) causes significant burden in pediatric patients in spite of maintained treatment with phosphate supplements and vitamin D derivatives.
Silvia Martín Ramos, Marta Gil-Calvo, Virginia Roldán, Ana Castellano Martínez, Fernando Santos, Fernando Santos, Fernando Santos   +6 more
doaj   +1 more source

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

A new metabolic path in type 3 rickets

The FEBS Journal, Volume 293, Issue 3, Page 656-659, February 2026.
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Toshiya Senda, Yoshihisa Hirota
wiley   +1 more source

Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study

Biomedicines
Background: X-linked hypophosphatemia (XLH) is a rare disorder characterized by elevated levels of fibroblast growth factor 23 (FGF-23), leading to hypophosphatemia and complications in diagnosis due to its clinical heterogeneity.
Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Noemí Máñez Ramírez, Julio Hernández-Jaras   +4 more
doaj   +1 more source