Results 41 to 50 of about 1,121 (157)

A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets

Bone Reports, 2022
Epidermal Nevus Syndrome (ENS), also known as Cutaneous Skeletal Hypophosphatemia Syndrome or Linear Sebaceous Nevus Syndrome, is caused by a mosaic somatic mutation of RAS (Rat Sarcoma genes) which leads to abnormally elevated levels of fibroblast ...
Carson Huynh, Andrea Gillis, Jessica Fazendin, Hussein Abdullatif   +3 more
doaj   +1 more source

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Frontiers in Endocrinology, 2022
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities.
Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich   +10 more
doaj   +1 more source

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study

Frontiers in Endocrinology, 2022
BackgroundGait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis.
Gabriel T. Mindler, Gabriel T. Mindler, Alexandra Stauffer, Alexandra Stauffer, Andreas Kranzl, Andreas Kranzl, Stefan Penzkofer, Rudolf Ganger, Rudolf Ganger, Christof Radler, Christof Radler, Gabriele Haeusler, Gabriele Haeusler, Adalbert Raimann, Adalbert Raimann   +14 more
doaj   +1 more source

The Possible Outcomes of Poor Adherence to Conventional Treatment in Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia

Endocrines, 2023
X-linked hypophosphatemic rickets/osteomalacia is an inherited disease caused by the loss of function in PHEX. Elevated plasma FGF23 in patients with XLH leads to hypophosphatemia.
Hiroaki Zukeran, Kento Ikegawa, Chikahiko Numakura, Yukihiro Hasegawa   +3 more
doaj   +1 more source

Burosumab - a new drug to treat hypophosphatemic rickets [PDF]

Sudanese Journal of Paediatrics, 2017
Burosumab (KRN23) is a fully human monoclonal IgG1 antibody that binds excess fibroblast growth factor 23 (FGF23) and has been successfully tested in clinical trials in children with X-linked hypophosphatemic rickets. A report enclosed in this letter gives a brief review of current knowledge on burosumab therapy.
Stepan Kutilek, Dr. Babiker, Dr. Alenazi
openaire   +2 more sources

Molecular pathophysiology of chronic kidney disease–mineral and bone disorder: Focus on the fibroblast growth factor 23–Klotho axis and bone turnover dynamics

Experimental Physiology, EarlyView.
Abstract Chronic kidney disease–mineral and bone disorder (CKD‐MBD) is a major complication of chronic kidney disease (CKD), characterized by disruptions in mineral metabolism, abnormal bone turnover and vascular calcification, which collectively increase the risk of fractures and cardiovascular disease.
Alief Waitupu, Laras Pratiwi, Henry Sutanto, Djoko Santoso, Decsa Medika Hertanto   +4 more
wiley   +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

Lack of Differences in the Pharmacokinetics of Therapeutic Monoclonal Antibodies Between Japanese and Non‐Japanese Individuals

The Journal of Clinical Pharmacology, Volume 66, Issue 8, August 2026.
Abstract Evaluation of the pharmacokinetics (PK) of new drugs in Japanese individuals is regularly requested by the Japanese regulatory agency prior to participation in global clinical trials or for bridging approaches for regulatory approval. However, the need for PK assessments in the Japanese population may be less compelling for monoclonal ...
Paridhi Gupta, Ashish Sharma, Bernd Meibohm   +2 more
wiley   +1 more source

Diffuse and Prolonged Bone Pain Revealing Tumor‐Induced Osteomalacia: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Tumor‐induced osteomalacia should be considered in patients with unexplained bone pain and fractures. Advanced imaging, such as Ga68‐DOTATATE PET/CT, enables precise tumor localization, and surgical excision can rapidly normalize phosphate metabolism and resolve symptoms, underscoring the importance of early diagnosis and intervention.
Rahman Amraei, Amirmohammad Karimi, Samad Nazarpoor, Saeed Choobkar   +3 more
wiley   +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