Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
Abstract Background Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndro...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2018-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |