Malignant hyperthermia in Lesch-Nyhan disease
<p>Lesch-Nyhan disease is a heritable disorder of purine metabolism. Inheritance is X-linked and the disease occurs almost exclusively in males. Defective activity of hypoxanthine phosphoribosyltransferase leads to hyperuricemia and increased quantities of uric acid in the urine. All patients...
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Format: | Book |
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Archives of Clinical Nephrology - Peertechz Publications,
2019-05-08.
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