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

• Những tác giả chính: Meijiao Zhang (Tác giả), Liping Zhu (Tác giả), Huiping Wang (Tác giả), Ying Hao (Tác giả), Qingping Zhang (Tác giả), Chunyan Zhao (Tác giả), Xinhua Bao (Tác giả)
• Định dạng: Sách
• Được phát hành: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...