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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Auteurs principaux: Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres
Format: article
Langue:EN
Publié: Wiley 2021
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Accès en ligne:https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af868
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