Results 111 to 120 of about 4,392 (235)

Hypophosphatemic Rickets/ Osteomalacia: A Case Report and Review of Literature [PDF]

, 2014
Hypophosphatemic rickets/ osteomalacia comprises of a group of disorders of bone mineralization caused due to defect in renal handling of phosphorus. The group includes X linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and ...
Kotwal, Col. Narendra, Kumar, Yogesh, Pandit, Aditi, Upreti, Vimal   +3 more
core   +1 more source

Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report

Педиатрическая фармакология
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva, Emma S. Grigoryan, Tatyana V. Turti, Tatiana E. Privalova, Nato D. Vashakmadze, Nina A. Krasnoshchekova   +5 more
doaj   +1 more source

X-linked hypophosphatemic rickets: cases series and literature review with a focus on neurosurgical management

, 2023
Federico Baronio, Ferdinando Aliberti, Filomena Carfagnini, Giovanni Luigi Di Gennaro, Daniela Pasquali, Rossella Santoro, Giuseppe Toro, Mino Zucchelli, Anna Grandone   +8 more
openalex   +2 more sources

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

FGF23 directly inhibits osteoprogenitor differentiation in Dmp1-knockout mice

JCI Insight, 2023
Fibroblast growth factor 23 (FGF23) is a phosphate-regulating (Pi-regulating) hormone produced by bone. Hereditary hypophosphatemic disorders are associated with FGF23 excess, impaired skeletal growth, and osteomalacia. Blocking FGF23 became an effective
Guillaume Courbon, Dominik Kentrup, Jane Joy Thomas, Xueyan Wang, Hao-Hsuan Tsai, Jadeah Spindler, John Von Drasek, Laura Mazudie Ndjonko, Marta Martinez-Calle, Sana Lynch, Lauriane Hivert, Xiaofang Wang, Wenhan Chang, Jian Q. Feng, Valentin David, Aline Martin   +15 more
doaj   +1 more source

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

Bone Reports
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets.
Lillian Abebe, Kim Phung, Marie-Eve Robinson, Richelle Waldner, Sasha Carsen, Kevin Smit, Andrew Tice, Joanna Lazier, Christine Armour, Marika Page, Saunya Dover, Frank Rauch, Khaldoun Koujok, Leanne M. Ward   +13 more
doaj   +1 more source

Vitamin D: pharmacology and clinical challenges in oral health care [PDF]

, 2019
Vitamin D is a hormone, produced endogenously through cutaneous transformation of 7-dehydrocholesterol by UVB-irradiation with skeletal and non-skeletal functions and could be involved in oral health conditions especially periodontitis.
Antoun Reyad, Ayman, Girgis, Eriny
core  

Current perspective on medical management, orthopedic treatment, and the use of the Ilizarov method in children with X-linked hypophosphatemic rickets [PDF]

Chirurgia Narządów Ruchu i Ortopedia Polska
Hypophosphatemic rickets encompasses a group of rare metabolic diseases that cause lower limb bowing and growth impairment. The mainstay of its management rests in frequent dosages of oral phosphate salts and active vitamin D derivatives.
Paweł Kasprzak, Bartłomiej Wilk, Paweł Łęgosz   +2 more
doaj   +1 more source

Expression of renal and intestinal Na/Pi cotransporters in the absence of GABARAP [PDF]

, 2018
We have recently shown that the abundance of the renal sodium (Na)/inorganic phosphate (Pi) cotransporter NaPi-IIa is increased in the absence of the GABAA receptor-associated protein (GABARAP).
Betz, Heinrich, Biber, Jürg, Hernando, Nati, Liesegang, Annette, Murer, Heini, Reining, Sonja   +5 more
core  

Three-Year Successful Cinacalcet Treatment of Secondary Hyperparathyroidism in a Patient with X-Linked Dominant Hypophosphatemic Rickets: A Case Report

Case Reports in Endocrinology, 2014
Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D.
Diana Grove-Laugesen, Lars Rejnmark
doaj   +1 more source