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

• প্রধান লেখক: Meijiao Zhang (লেখক), Liping Zhu (লেখক), Huiping Wang (লেখক), Ying Hao (লেখক), Qingping Zhang (লেখক), Chunyan Zhao (লেখক), Xinhua Bao (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...