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
doaj +1 more source
An unusual case of familial hypophosphatemic rickets
International Journal of Contemporary Pediatrics, 2023 Rickets is the failure of mineralisation 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 serum phosphate level leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities and growth retardation.
Leny E. Bhadke +2 more
openaire +1 more source
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
doaj +1 more source
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. [PDF]
PLoS ONE, 2013 Mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) cause X-linked familial hypophosphatemic rickets (XLH), a disorder having severe bone and tooth dentin mineralization defects.
Benjamin Salmon +17 more
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Intestinal Phosphate Transport in Familial Hypophosphatemic Rickets [PDF]
Pediatric Research, 1976 The present report outlines an attempt to characterize inorganic phosphate uptake by human jejunal mucosa using biopsy material obtained from six patients affected by the X-linked form of vitamin D-resistant rickets and six control subjects. The tissue from control subjects accumulated 32P actively in a linear fashion against time. The incorporation of
F H, Glorieux +4 more
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Brazilian Journal of Nephrology, 2020 Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent ...
Rachita Singh Dhull +6 more
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Spring technique for correction of multilevel deformity using hexapod external fixator
Journal of Limb Lengthening & Reconstruction, 2018 Context: Osteotomies in several parts of one long bone are recommended for correction of a long, curved, and wide-angled deformity. Hexapod external fixators (HEFs) allow for the single-stage correction of multiplanar deformity, but they are heavy ...
Leonid N Solomin +5 more
doaj +1 more source
Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
Bezmiâlem Science, 2018 Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome.
Ender COŞKUNPINAR +8 more
doaj +1 more source
Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria
BMC Pediatrics, 2023 Abstract Background Hereditary hypophosphatasia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Case presentation To learn about the clinical presentation and treatment of the disease, we performed Clinical ...
Lufeng Wang +5 more
openaire +3 more sources