Results 1 to 10 of about 7,235,288 (192)

X-linked hypophosphatemic rickets: a new mutation [PDF]

Brazilian Journal of Nephrology, 2020
Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Patrícia Maio, Lia Mano, Sara Rocha, Rute Baeta Baptista, Telma Francisco, Helena Sousa, João Parente Freixo, Margarida Abranches   +7 more
doaj   +10 more sources

X-linked hypophosphatemic rickets: from diagnosis to management [PDF]

Clinical and Experimental Pediatrics
X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts ...
Eujin Park, Hee Gyung Kang
doaj   +5 more sources

X-linked hypophosphatemic rickets: an Italian experts’ opinion survey [PDF]

Italian Journal of Pediatrics, 2019
Background X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23.
F. Emma, M. Cappa, F. Antoniazzi, M. L. Bianchi, I. Chiodini, C. Eller Vainicher, N. Di Iorgi, M. Maghnie, A. Cassio, A. Balsamo, F. Baronio, L. de Sanctis, D. Tessaris, G. I. Baroncelli, S. Mora, M. L. Brandi, G. Weber, A. D’Ausilio, E. P. Lanati   +18 more
doaj   +15 more sources

X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro [PDF]

Molecular Genetics & Genomic Medicine, 2022
Background X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. Methods
Miguel Madeira, Maria Caroline Alves Coelho, Marcia G. Ribeiro   +2 more
exaly   +3 more sources

X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management [PDF]

Frontiers in Endocrinology, 2021
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tubular reabsorption of phosphate and ...
Giampiero I Baroncelli, Stefano Mora
exaly   +4 more sources

Burosumab in infants with X-linked hypophosphatemic rickets: a case series [PDF]

Orphanet Journal of Rare Diseases
Background X-linked hypophosphatemic rickets (XLH) is a rare inherited metabolic bone disorder caused by excess fibroblast growth factor 23 (FGF23), leading to hypophosphatemia and rickets.
Ravit Regev, Avivit Brener, Nitzan Dror, Raphael Krespi, Rebeca Rapalino, Efrat Chorna, Ophir Borger, Adar Lopez, Yael Lebenthal, Leonid Zeitlin   +9 more
doaj   +5 more sources

A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2021
X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
doaj   +2 more sources

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets. [PDF]

Adv Sci (Weinh)
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Wu H, Zhao W, Chen X, Wang Y, Wei S, Xiang B, Shi Y, Li Z, Yao Y, Xie J, Qiu R, Shu M, Xu S, Chen P, Chen Z, Wu Y, Xia W, Gao L, Song Y, Zhao J, Xu C.   +20 more
europepmc   +2 more sources

X-linked hypophosphatemic rickets with advanced bone age treated with aromatase inhibitor [PDF]

Endocrine Connections, 2023
We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year ...
João Felipe Queiroz, Soraya Lopes Sader, Carina Marques Barroso, Guido de Paula Colares Neto   +3 more
doaj   +2 more sources

Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14
Fahad Al-Juraibah, Adnan Al Shaikh, Afaf Al-Sagheir, Amir Babiker, Asma Al Nuaimi, Ayed Al Enezi, George S Mikhail, Hassan A Mundi, Hubert K Penninckx, Huda Mustafa, Majid Al Ameri, Mohamed Al-Dubayee, Nadia S Ali, Nagla Fawzy, Sameer Al Shammari, Tarek Fiad   +15 more
doaj   +2 more sources