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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Detalles Bibliográficos
Autores principales: Jagadish, Spoorthi, Howard, Lillian, Thati Ganganna, Sreenath
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633869/
https://www.ncbi.nlm.nih.gov/pubmed/34877518
http://dx.doi.org/10.1016/j.ebr.2021.100505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633869/
https://www.ncbi.nlm.nih.gov/pubmed/34877518
http://dx.doi.org/10.1016/j.ebr.2021.100505

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