A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature
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...
Enregistré dans:
| Auteurs principaux: | , , , , , , |
|---|---|
| Format: | Livre |
| Publié: |
Frontiers Media S.A.,
2023-01-01T00:00:00Z.
|
| Sujets: | |
| Accès en ligne: | Connect to this object online. |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Internet
Connect to this object online.3rd Floor Main Library
| Cote: |
A1234.567 |
|---|---|
| Exemplaire 1 | Disponible |