Results 51 to 60 of about 2,648 (201)

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
X-Linked hypophosphatemia (XLH; OMIM no. 307800) is an X-linked dominant disease due to inactivating mutations in the PHEX gene that increase fibroblast growth factor 23 (FGF23) expression in bone, resulting in renal phosphate wasting and inappropriately normal calcitriol concentrations (1).
openaire   +2 more sources

Dental Manifestations and Oral Management of X-Linked Hypophosphatemia

Endocrines, 2022
X-linked hypophosphatemia (XLH) is the most common genetic form of rickets and osteomalacia and is characterized by growth retardation, deformities of the lower limbs, and bone and muscular pain.
Rena Okawa, Kazuhiko Nakano
doaj   +1 more source

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

Dental health of pediatric patients with X-linked hypophosphatemia (XLH) after three years of burosumab therapy

Frontiers in Endocrinology, 2022
An inactivating PHEX gene mutation with the resultant accumulation of several mineralization-inhibiting proteins (e.g., FGF23) causes skeletal and dental morbidity in X-linked hypophosphatemia (XLH).
Rafi Brener, Rafi Brener, Leonid Zeitlin, Leonid Zeitlin, Yael Lebenthal, Yael Lebenthal, Avivit Brener, Avivit Brener   +7 more
doaj   +1 more source

Influence of Test Temperature and Test Frequency on Fatigue Life of Aluminum Alloy EN AW‐2618A

Advanced Engineering Materials, Volume 28, Issue 17, 9 September 2026.
The influence of test temperature and test frequency on the fatigue life of EN AW‐2618A is investigated. High‐cycle fatigue tests are performed at different test temperatures and frequencies on the 1000 h/230°C overaged state. Both test parameters reduce fatigue life due to time‐dependent damage mechanisms.
Ying Han, Julian M. Rosalie, Jan Radners, Mauro Madia, Philipp von Hartrott, Birgit Skrotzki   +5 more
wiley   +1 more source

The Burden of Adult X-Linked Hypophosphatemia on Carers and Family Members: A Mixed-Methods Study

Journal of Health Economics and Outcomes Research
# Introduction X-linked hypophosphatemia (XLH) is a rare, genetic disorder that severely impacts the health-related quality of life (HRQoL) of people living with the condition.
Elina Matter, Claire Lawrence, Oliver Gardiner, Victoria Hayes, Gillian Logan, Ben Johnson, Andrew Lloyd   +6 more
doaj   +1 more source

The importance of early diagnosis of X-linked hypophosphatemic rickets: a case report

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. XLH is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, leading to chronic renal phosphate excretion and impairment of
Francesca Franchina, Fabio Toscano, Giovanni Luppino, Giorgia Pepe, Tommaso Aversa, Domenico Corica   +5 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

Supplemental materials for effect of conventional treatment on dental complications and ectopic ossifications among 30 adults with XLH

, 2022
This is the supplemental materials for effect of conventional treatment on dental complications and ectopic ossifications among 30 adults with ...
Toru Ogasawara (266984), Nobuaki Ito (9701533), Yuki Taniguchi (9701524), Kazuto Hoshi (12380513), Rena Okawa (11033843), Hajime Kato (9701507), Masaomi Nangaku (12380515), Naoko Hidaka (12380487), Yuka Kinoshita (9701520), Noriko Makita (9701531), Minae Koga (9701516), Kazuhiko Nakano (630560), Hiroshi Kobayashi (9376151), Seiji Fukumoto (9701529), Yoshitomo Hoshino (12380502)   +14 more
core   +1 more source