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Article

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Orphanet journal of rare diseases - 30 Jan 2018

Marti-Sanchez L, Ortigoza-Escobar J D, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas M I, Muchart J, Aquino L, Artuch R, Macaya A, Kurian M A, Dueñas Pérez

Abstract excerpt

BACKGROUND: The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aimed to explore further biomarkers of Mn deposition in the central nervous system in two siblings presenting with acute dystonia and hypermanganesemia due to mutations in SLC39A14. These...

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Identifiers

PMID: 29382362
DOI: 10.1186/s13023-018-0758-x
PMCID: PMC5791243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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