Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

Autor: Tondo, Mireia, Calpena, Eduardo, Arriola, Gema, Sanz, Paloma, Martorell, Loreto, Ormazabal, Aida, Castejon, Esperanza, Palacin, Manuel, Ugarte, Magdalena, Espinos, Carmen, Perez, Belen, Perez-Dueñas, Belen, Pérez-Cerda, Celia, Artuch, Rafael
Zdroj: In Molecular Genetics and Metabolism November 2013 110(3):231-236
Databáze: ScienceDirect