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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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Instance of
Scholarly article
Author
Dorota Piekutowska-Abramczuk
Agnieszka Bakuła
Dariusz Rokicki
Patryk Lipinski
Subject
Microcephaly
Liver failure
References
Wikidata