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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Autores principales: | Spoorthi Jagadish, Lillian Howard, Sreenath Thati Ganganna |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b |
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