Atypical presentation of SLC30A10 gene mutation with hypermanganesemia, seizures and polycythemia

Manganese is an essential element that is ubiquitously present in our diet and water supply. It is a cofactor for several critical physiological processes. Elevated blood levels of Manganese secondary to SLC30A10 gene mutation presents distinctly with dystonia, polycythemia, chronic liver disease an...

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Auteurs principaux: Spoorthi Jagadish, Lillian Howard, Sreenath Thati Ganganna
Format: article
Langue:EN
Publié: Elsevier 2021
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Accès en ligne:https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b
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