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Significats de hypophosphatemic rickets en anglès
Disorder characterized by hypophosphatemi, rickets, osteomalacia, resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.
X-linked hypophosphatemicrickets and autosomal dominant hypophosphatemicrickets are inherited phosphate wasting disorders.
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Human DMP1 mutations are responsible for the condition known as autosomal recessive hypophosphatemicrickets.
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A subset of those who survive eventually develop hypophosphatemicrickets.
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Skeletal muscle dysfunction accompanies the clinical disorders of chronic kidney disease (CKD) and hereditary hypophosphatemicrickets.
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X-linked hypophosphatemicrickets in humans is caused by mutations in the PEX gene which codes for a protein homologous to neutral endopeptidases.
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X-linked hypophosphatemicrickets results from mutations in the PHEX gene, which codes for a protein that is a member of the neutral endopeptidase family.