NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
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P. Socha | A. Tylki-Szymańska | D. Rokicki | E. Jurkiewicz | D. Piekutowska-Abramczuk | I. Jankowska | A. Bakuła | Patryk Lipiński | M. Greczan