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An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
Pajares, S., López, R.M., Gort, L., Argudo-Ramírez, A., Marín, J.L., González de Aledo-Castillo, J.M., García-Villoria, J., Arranz, J.A., Del Toro, M., Tort, F., Ugarteburu, O., Casellas, M.D., FernánVolume:
22
Langue:
english
Journal:
Molecular Genetics and Metabolism Reports
DOI:
10.1016/j.ymgmr.2019.100553
Date:
March, 2020
Fichier:
PDF, 856 KB
english, 2020