Results 21 to 30 of about 4,392 (235)

9324 X-Linked Hypophosphatemic Rickets (XLH): Experience Argentina [PDF]

J Endocr Soc
Abstract Disclosure: E. Giacoia: Research Investigator; Self; Ultragenyx. A.C. Cantó: Research Investigator; Self; Ultragenyx. M.C. Balonga: Research Investigator; Self; Ultragenyx. Introduction: XLH is a genetic disease characterized by rickets and osteomalacia caused by pathogenic variants in PHEX with disruptions in ...
Giacoia, E, Cantó, A C, Balonga, M C
europepmc   +2 more sources

A PAI‐1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D‐resistant rickets model mouse

FEBS Open Bio
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23.
Cheng Qian, Nobuaki Ito, Kunikazu Tsuji, Shingo Sato, Katsushi Kikuchi, Toshitaka Yoshii, Toshio Miyata, Yoshinori Asou   +7 more
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

Management of X-linked hypophosphatemic rickets: a review

International Journal of Research in Medical Sciences, 2020
There are two types of management in X-linked hypophosphatemic rickets (XLH), out of which the main stay of treatment is conventional treatment which includes combination of oral phosphate supplements and active vitamin D (calcitriol or alfacalcidol) after the diagnosis is established. Although, conventional treatment with phosphate supplementation and
Mohammed Azar
openaire   +3 more sources

Comprehensive dental examination and management of a patient with X-linked hypophosphatemic rickets

Эндодонтия Today, 2020
One of the main findings in patients with known hypophosphataemic rickets (XLHR) is multiple abscesses or sinus tracts associated with carious free teeth of the primary and the permanent dentition.
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doaj   +2 more sources

Mineralization Defects in the Primary Dentition Associated With X‐Linked Hypophosphatemic Rickets [PDF]

JBMR Plus, 2021
Delaney Clayton, Michael B Chavez, Michelle H Tan, Tamara N Kolli, Priscila A Giovani, Kimberly J Hammersmith, Sasigarn A Bowden, Brian L Foster   +7 more
doaj   +2 more sources

Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study. [PDF]

Front Pediatr
Levi S, Landau D, Davidovits M, Shapira Rootman M, Brener A, Gal S, Borovitz Y, Goldberg O, Bello R, Cleper R, Lebenthal Y, Levy-Shraga Y, Tiosano D, Chezana A, Regev R, Zeitlin L.   +15 more
europepmc   +2 more sources

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

Orphanet J Rare Dis
Regev R, Brener A, Dror N, Krespi R, Rapalino R, Chorna E, Borger O, Lopez A, Lebenthal Y, Zeitlin L.   +9 more
europepmc   +3 more sources

A Case of X-Linked Hypophosphatemic Rickets with Dentin Dysplasia in Mandibular Third Molars. [PDF]

Children (Basel), 2022
Okawa R, Hamada M, Takagi M, Matayoshi S, Nakano K.   +4 more
europepmc   +3 more sources

Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children. [PDF]

J Endocr Soc, 2022
Nguyen-Khac V, Bonnet-Lebrun A, Linglart A, de Tienda M, Berkenou J, Mannes I, Adamsbaum C, Wicart P, Skalli W.   +8 more
europepmc   +2 more sources