NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
Titel:
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
Auteur:
Lipiński, Patryk Greczan, Milena Piekutowska-Abramczuk, Dorota Jurkiewicz, Elżbieta Bakuła, Agnieszka Socha, Piotr Jankowska, Irena Rokicki, Dariusz Tylki-Szymańska, Anna