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Curr Opin Nephrol Hypertens. 1997 Jan;6(1):15-9.

New insights into X-linked hypophosphatemia.

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  • 1Renal Division, Washington University School of Medicine, St. Louis, MO 63110, USA.


X-linked hypophosphatemia is a heritable form of rickets characterized biochemically by phosphaturia and abnormal bioactivation of vitamin D. Recent advances include the observation, using kidney cells from the X-linked hypophosphatemia mouse model (Hyp), that in-vitro renal phosphate transport is normal yet bone mineralization may be intrinsically abnormal. Of special interest is the identification of a gene (PEX) that is mutated in X-linked hypophosphatemic patients.

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