Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation
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DOI: 10.1002/mdc3.12861
Abstract: Hypermanganesemia with dystonia 1 (HMNDYT1, OMIM #613280) is caused by mutations in the manganese (Mn) transporter SLC30A10 and characterized by Mn deposition in the liver and brain. Affected individuals present with dystonia–parkinsonism, liver disease, polycythemia,… read more here.
Keywords: hypermanganesemia dystonia; iron supplementation; dystonia; response ... See more keywords
Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children
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DOI: 10.1002/mdc3.13516
Abstract: Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport. read more here.
Keywords: clinical profile; hypermanganesemia dystonia; outcomes hypermanganesemia; treatment outcomes ... See more keywords