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A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature
BACKGROUND: Manganese (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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886663/ https://www.ncbi.nlm.nih.gov/pubmed/36733764 http://dx.doi.org/10.3389/fped.2022.949651 |