Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets [PDF]
This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS ...
Mauro M.S. Borghi +2 more
exaly +5 more sources
Familial hypophosphatemic rickets
Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate ...
Sattur A +3 more
doaj +4 more sources
A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022) [PDF]
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García +6 more
doaj +3 more sources
Calcimimetics as an Adjuvant Treatment for Familial Hypophosphatemic Rickets [PDF]
The treatment for X-linked hypophosphatemia (XLH) with phosphate and calcitriol can be complicated by secondary hyperparathyroidism and nephrocalcinosis. Furthermore, vitamin D and phosphate stimulate FGF23 production, the pathogenic factor causing XLH.
L Darryl Quarles +2 more
exaly +5 more sources
Familial hypophosphatemic rickets: report of a case
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. 1-4Albright found that most FHR is x-linked dominanttype.
Edi S Tehuteru, Taralan Tambunan
openaire +3 more sources
Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. [PDF]
Familial hypophosphatemic rickets is transmitted in most cases as an X-linked dominant trait and results from the mutation of the PHEX gene predominantly expressed in osteoblast and odontoblast. Patients with rickets have been reported to display important dentin defects.
Gaucher C +7 more
europepmc +4 more sources
Familial hypophosphatemic rickets
S Vivekanandan
doaj +3 more sources
Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]
Ribeiro TR +4 more
exaly +2 more sources
X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]
X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets.
Isabel Rodrigues Leal Moitinho de Almeida +3 more
doaj +1 more source
A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]
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 +1 more source

