
Fatty Acyl-CoA Reductase 1 Deficiency
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DOI: https://doi.org/10.15844/pedneurbriefs-29-1-5 | Journal eISSN: 2166-6482
Language: English
Page range: 6 - 6
Submitted on: Dec 15, 2014
Accepted on: Dec 25, 2014
Published on: Jan 1, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2015 Charles N Swisher, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.