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METABOLISM-CLINICAL AND EXPERIMENTAL (2020)
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation
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Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
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BONE (2019)
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner et al.
NATURE REVIEWS NEPHROLOGY (2019)
Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
Huda A. BinEssa et al.
BONE (2019)
Hyperparathyroidism and parathyroidectomy in X-linked hypophosphatemia patients
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Biology of Fibroblast Growth Factor 23: From Physiology to Pathology
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COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2018)
X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment
Yuka Kinoshita et al.
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Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
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JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2018)
X-linked hypophosphatemia and growth
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Phosphate enhances Fgf23 expression through reactive oxygen species in UMR-106 cells
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JOURNAL OF BONE AND MINERAL METABOLISM (2016)
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INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2016)
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Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
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JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
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JOURNAL OF BONE AND MINERAL RESEARCH (2003)
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein
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