International Journal of Oral Science, 2023 X-linked hypophosphatemia (XLH) represents the most common form of familial hypophosphatemia. Although significant advances have been made in the treatment of bone pathology, patients undergoing therapy continue to experience significantly decreased oral
Elizabeth Guirado +7 more
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The Turkish Journal of Pediatrics, 2023 Background. Familial hypocalciuric hypercalcemia (FHH) is one of the conditions that should be considered in the differential diagnosis of hypercalcemia and normo-hypophosphatemia in childhood.
Serkan Bilge Koca
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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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Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]
PLoS ONE, 2014 OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue +12 more
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Intestinal phosphate transport in familial hypophosphatemia [PDF]
Pediatric Research, 1974 Renal inorganic phosphate (Pi) transport is impaired in familial hypophosphatemic rickets (FHR). Short et al. (Science,179, 700, 1973) have reported that the mutation was also expressed in the gut. We have examined Pi uptake in vitro by jejunal mucosa from 7 (4 female, 3 male) FHR mutants (from 5 pedigrees) and 6 controls.
F H Glorieux +5 more
openaire +2 more sources
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia
Frontiers in Cell and Developmental Biology, 2021 X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate.
Xiaoyun Lin +3 more
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PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]
PLoS ONE, 2014 ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk +2 more
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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
core +4 more sources
Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia [PDF]
, 2016 The transgenic and knockout (KO) animals involving Fgf23 have been highly informative in defining novel aspects of mineral metabolism, but are limited by shortened lifespan, inability of spatial/temporal FGF23 control, and infertility of the global KO ...
Allen, Matthew R. +6 more
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Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]
, 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 ...
Costa, F. W. G. +4 more
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