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

• المؤلفون الرئيسيون: Meijiao Zhang (مؤلف), Liping Zhu (مؤلف), Huiping Wang (مؤلف), Ying Hao (مؤلف), Qingping Zhang (مؤلف), Chunyan Zhao (مؤلف), Xinhua Bao (مؤلف)
• التنسيق: كتاب
• منشور في: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...