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

• 主要な著者: Meijiao Zhang (著者), Liping Zhu (著者), Huiping Wang (著者), Ying Hao (著者), Qingping Zhang (著者), Chunyan Zhao (著者), Xinhua Bao (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...