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Significats de hypophosphatemic vitamin d-resistant rickets en anglès

Human disease.

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      Disorder characterized by hypophosphatemi, rickets, osteomalacia, resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.

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          Examples for "hyp"
          Examples for "hyp"
          1
          But everything depended upon getting off-hyp-getting to Drammen-hyp, hyp-intime to catch the train which left for Modum at two o'clock.
          Norse Tales and Sketches
          2
          The osteogenic sarcoma-derived bone-inducing substance was implanted in Hyp mice or control mice.
          Pubmed
          3
          These results will facilitate attempts further to localize and clone the HYP gene.
          Pubmed
          4
          The 3' end of this gene is deleted in Hyp mice.
          Pubmed
          5
          This study demonstrates that complement is an important mediator in early xenograft HYP injury.
          Pubmed
          1
          XLH patients are more likely to have elevated intact FGF23 than C-terminal FGF23.
          Pubmed
          2
          In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed with XLH.
          Pubmed
          3
          Our data, in accord with those of others, indicate that there is no single predominant PHEX mutation responsible for XLH.
          Pubmed
          4
          Normal serum klotho levels were associated with normal FGF23 biologic activity in all XLH patients and a minority of ADPKD patients.
          Pubmed
          5
          Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH.
          Pubmed
          1
          X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets are inherited phosphate wasting disorders.
          Pubmed
          2
          X-linked hypophosphatemic rickets in humans is caused by mutations in the PEX gene which codes for a protein homologous to neutral endopeptidases.
          Pubmed
          3
          X-linked hypophosphatemic rickets results from mutations in the PHEX gene, which codes for a protein that is a member of the neutral endopeptidase family.
          Pubmed