A prospective evaluation of whole-exome sequencing as the most effective diagnostic strategy in children with suspected mitochondrial disorders.
Authors: Małgorzata Krajewska-Walasek, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Joanna Trubicka, Dariusz Rokicki, Agnieszka Karkucińska-Więckowska, Magdalena Pajdowska, Elżbieta Jurkiewicz, Paulina Halat, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Piotr Stawiński, Maciej Pronicki, Rafał Płoski, Ewa Pronicka
Published in: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Publication type: conference