Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases

Autor: Wu, Chen-Han Wilfred, Caha, Martin, Smoot, Leslie, Harris, David J., Roberts, Amy E., Sacharow, Stephanie, Bodamer, Olaf
Zdroj: In Molecular Genetics and Metabolism July 2023 139(3)
Databáze: ScienceDirect