
MEDNIK Syndrome: A Defect of Copper Metabolism
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DOI: https://doi.org/10.15844/pedneurbriefs-27-4-10 | Journal eISSN: 2166-6482
Language: English
Page range: 32 - 32
Published on: Apr 1, 2013
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.