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
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A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets [PDF]
Endocrinology and Metabolism, 2014 Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less ...
Yea Eun Kang +6 more
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Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets
World Journal of Endocrine Surgery, 2017 Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A.
Santiago Linacero +5 more
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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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Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets
Bone ReportsHypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling.
Deepti Chaturvedi +4 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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Mineralization Defects in the Primary Dentition Associated With X‐Linked Hypophosphatemic Rickets [PDF]
JBMR Plus, 2021 Delaney Clayton +7 more
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A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
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Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors [PDF]
Journal of the Endocrine Society, 2019 Maria Cristina Chammas +2 more
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X-linked hypophosphatemic rickets: a new mutation
, 2021 Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Lia Mano (10467844) +7 more
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