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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Autores principales: Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af868
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