X - Linked Hypophosphatemic Rickets: A diagnostic and therapeutic challenge
Iatreia, 2021 X-linked hypophosphatemia is a genetic disorder caused by PHEX gene mutations, which affects the encoding of a metalloprotease whose function is to inhibit fibroblastic growth factor —23 (FGF-23), promoting phosphate renal loss.
Guerrero Tinoco, Gustavo Adolfo +2 more
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Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsX-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wasting, reduced 1,25 ...
Sara Ribeiro +4 more
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Compositional and microhardness findings in tooth affected by X-linked hypophosphatemic rickets. [PDF]
J Clin Exp Dent, 2020 This study aimed to evaluate the X-linked hypophosphatemic rickets (XLHR)-related compositional and microhardness tooth aspects. One affected and one non-affected teeth by XLHR were sectioned transversely, and each section was separated for Micro-Raman
Carvalho FS +6 more
europepmc +4 more sources
X-linked hypophosphatemic rickets: case report
Residência Pediátrica, 2022 INTRODUCTION: The X-linked hypophosphatemic rickets is considered the most common cause of rickets. It is an X-linked dominant disease, caused by a PHEX gene mutation. It is believed that the biochemical and bone mineralization changes because of the increase of phosphaturic factor, resulting from the PHEX genes inability to inactivate its substrate ...
Camila Gonçalves +7 more
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High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR) [PDF]
Journal of Bone and Mineral Research, 2019 Justine Bacchetta +2 more
exaly +4 more sources
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets [PDF]
Case Reports in Genetics, 2015 X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara +4 more
doaj +2 more sources
Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2013 X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking.The aim of the study was to assess volumetric bone mineral density (vBMD) in X-linked hypophosphatemic rickets using forearm peripheral quantitative computed ...
Cheung, Moira +6 more
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Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsX-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 +15 more
doaj +2 more sources
مجلة كلية الطبBackground: X-linked hypophosphatemic rickets (XLHR) is the most frequent form of inherited rickets. In children, stunted growth and disproportionately short stature are frequently the early signs of XLHR.
Munib A. Al-Zubaidi , Wasnaa H. Abdullah
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Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report [PDF]
ChildrenBackground: X-linked hypophosphatemic rickets (XLH) is a rare hereditary disorder characterized by renal phosphate wasting and impaired bone mineralization. Oral manifestations such as spontaneous periapical lesions and dental abscesses in the absence of
Nadezhda Mitova +2 more
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