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 +3 more
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Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets [PDF]
Scientific World Journal, The, 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 ...
Hatim A Omar
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Calcimimetics as an Adjuvant Treatment for Familial Hypophosphatemic Rickets [PDF]
Clinical Journal of the American Society of Nephrology, 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.
Uri S, Alon +5 more
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Familial hypophosphatemic rickets
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 S Vivekanandan
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Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]
Dentomaxillofacial Radiology, 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 +4 more
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A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022) [PDF]
Orphanet Journal of Rare DiseasesBackground 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
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Dentin Noncollagenous Matrix Proteins in Familial Hypophosphatemic Rickets [PDF]
Cells Tissues Organs, 2008 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.
Céline, Gaucher +7 more
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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 +3 more
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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
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Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo +8 more
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