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(2011) 6:e24385

Collectively, these clinical cases establish SLC39A8 as an essential Mn transporter and show that mutations can disrupt Mn homeostasis, leading to Mn deficiency and thereby impairing key Mn-dependent processes in glycosylation and mitochondrial antioxidant defense systems

Saito H

[DOI] [PubMed] [Google Scholar] 102.De Lorenzo A., Andreoli A., Sinibaldi Salimei P., DOrazio, Guidi A., Ghiselli A
