An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
Open Access
- 1 March 2020
- journal article
- research article
- Published by Elsevier BV in Molecular Genetics and Metabolism Reports
- Vol. 22, 100553
- https://doi.org/10.1016/j.ymgmr.2019.100553
Abstract
No abstract availableKeywords
Funding Information
- Instituto de Salud Carlos III (PI16/01048)
- Centro de Investigación Biomédica en Red de Enfermedades Raras
- Instituto de Salud Carlos III
- Ministerio de Ciencia e Innovación
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- CERCA Programme/Generalitat de Catalunya
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