Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
Abstract Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history...
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Formato: | article |
Lenguaje: | EN |
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Wiley
2021
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Acceso en línea: | https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af868 |
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