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

• Автори: Meijiao Zhang (Автор), Liping Zhu (Автор), Huiping Wang (Автор), Ying Hao (Автор), Qingping Zhang (Автор), Chunyan Zhao (Автор), Xinhua Bao (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...