Results 1 to 10 of about 2,024 (173)

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study. [PDF]

Dentomaxillofac Radiol, 2015
Objectives: The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary ...
Ribeiro TR, Costa FW, Soares EC, Williams JR, Fonteles CS.   +4 more
europepmc   +3 more sources

Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets [PDF]

The Scientific World Journal, 2005
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 ...
Borghi, Mauro M. S., Coates, Verônica, Omar, Hatim A.   +2 more
core   +4 more sources

Familial hypophosphatemic rickets

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2010
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, Naikmasur V, Shrivastava R, Babshet M   +3 more
doaj   +3 more sources

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022). [PDF]

Orphanet J Rare Dis
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Hernández-García F, Gil-Peña H, López JM, Fuente R, Oro Carbajosa P, Corrales-Reyes IE, Suárez JR.   +6 more
europepmc   +2 more sources

Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. [PDF]

Cells Tissues Organs, 2009
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, Boukpessi T, Septier D, Jehan F, Rowe PS, Garabédian M, Goldberg M, Chaussain-Miller C.   +7 more
europepmc   +4 more sources

Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets. [PDF]

Clin J Am Soc Nephrol, 2008
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.
Alon US, Levy-Olomucki R, Moore WV, Stubbs J, Liu S, Quarles LD.   +5 more
europepmc   +3 more sources

Familial hypophosphatemic rickets

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
S Vivekanandan
doaj   +3 more sources

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. [PDF]

J Clin Endocrinol Metab
Context: An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children.
Ali DS, Carpenter TO, Imel EA, Ward LM, Appelman-Dijkstra NM, Chaussain C, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rao C, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi ML, Khan AA.   +43 more
europepmc   +3 more sources

X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]

Revista Portuguesa de Nefrologia e Hipertensão, 2022
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, Ana Catarina Barbosa Rodrigues, Ana Patrícia Costa-Reis, Maria Rosário Arriaga Câmara Stone   +3 more
doaj   +1 more source

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   +1 more source