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Значения термина hypophosphatemic vitamin d-resistant rickets на английском

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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Синонимы
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
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The osteogenic sarcoma-derived bone-inducing substance was implanted in Hyp mice or control mice.
Pubmed
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These results will facilitate attempts further to localize and clone the HYP gene.
Pubmed
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The 3' end of this gene is deleted in Hyp mice.
Pubmed
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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
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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