Insights into Menkes disease A case report on rare X linked copper metabolism disorder linked to ATP7A mutation
Menkes Disease (MD) is a X-linked recessive degenerative disorder, involving mutations of ATP7A gene, characterized by impaired copper transport at the intracellular level contributes to nervous system dysfunction.
Authors
- R Dhanush
Publication Details
- Journal
- Open Journal of Clinical and Medical Case Reports
- Published
- 2025-01-15
- DOI
- https://doi.org/10.52768/2379-1039/2315
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00