Results 81 to 90 of about 7,235,288 (192)

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

, 1993
Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia.
DEVOTO, MARCELLA, A. Bolino, C. Zoccali, J. Weissenbach, G. Romeo, G. Enia   +5 more
core  

Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

, 2010
<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations.
Y. Zhao, L.Y. Phua, M. Chandran, C.L. Chng, Y.M. Bee, B.L. Clarke   +5 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

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

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

Recent advances in the diagnosis and treatment of X-linked hypophosphatemic rickets [PDF]

Linchuang erke zazhi
X-linked hypophosphatemic rickets (XLH) is a skeletal mineralization disorder characterized by hypophosphatemia, caused by pathogenic variants in the PHEX gene that lead to elevated levels of fibroblast growth factor 23 (FGF23), which in turn inhibits ...
CHENG Yuheng, XU Zizhao, CHEN Ying
doaj   +1 more source

X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review.

, 2015
PURPOSE: A defect in a phosphate-regulating gene leads to the most common form of rickets: X-linked hypophosphatemic rickets (XLH) or vitamin D-resistant rickets (VDDR).
Raphael Guzman, Jaszczuk, Phillip, Proctor, Mark R, Guzman, Raphael, Mark R. Proctor, Rogers, Gary F, Proctor, Mark R., Rogers, Gary F., Gary F. Rogers, Phillip Jaszczuk   +9 more
core   +1 more source

Familial hypophosphatemic rickets: report of a case

, 2016
Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance.
Taralan Tambunan, Edi S Tehuteru
core   +1 more source

Ideology and disease identity : the politics of rickets, 1929-1982 [PDF]

, 2013
How can we assess the reciprocal impacts of politics and medicine in the contemporary period? Using the example of rickets in twentieth century Britain, I will explore the ways in which a preventable, curable non-infectious disease came to have enormous ...
Bivins, Roberta E.
core   +1 more source

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