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

• Κύριοι συγγραφείς: Meijiao Zhang (Συγγραφέας), Liping Zhu (Συγγραφέας), Huiping Wang (Συγγραφέας), Ying Hao (Συγγραφέας), Qingping Zhang (Συγγραφέας), Chunyan Zhao (Συγγραφέας), Xinhua Bao (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...