MEDNIK syndrome: a new entry in the spectrum of inborn errors of copper metabolism
Copper homeostasis, including intestinal absorption, blood transport, uptake, trafficking and excretion, is regulated by multiple genes encoding for specific copper transporters, which coordinate copper bioavailability. Mutations in genes coding for copper pumps or copper chaperons are responsible f...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2020-05-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/946 |