A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

• Autori principali: Meijiao Zhang (Autore), Liping Zhu (Autore), Huiping Wang (Autore), Ying Hao (Autore), Qingping Zhang (Autore), Chunyan Zhao (Autore), Xinhua Bao (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism in humans. As very rare diseases, the clinical fe...