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

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

Abstract 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 nerv...

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Bibliographic Details
Main Authors: L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian, Pérez Dueñas
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Manganese homeostasis
SLC39A14; SLC30A10
Dystonia
Pallidum
Hypermanganesemia
Online Access:http://link.springer.com/article/10.1186/s13023-018-0758-x

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