NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy...

por Lipiński, Patryk, Greczan, Milena, Piekutowska-Abramczuk, Dorota, Jurkiewicz, Elżbieta, Bakuła, Agnieszka, Socha, Piotr, Jankowska, Irena, Rokicki, Dariusz, Tylki-Szymańska, Anna
Publicado 2021