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

Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectu...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Greczan, Milena, Piekutowska-Abramczuk, Dorota, Jurkiewicz, Elżbieta, Bakuła, Agnieszka, Socha, Piotr, Jankowska, Irena, Rokicki, Dariusz, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437862/
https://www.ncbi.nlm.nih.gov/pubmed/34427841
http://dx.doi.org/10.1007/s11011-021-00827-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437862/
https://www.ncbi.nlm.nih.gov/pubmed/34427841
http://dx.doi.org/10.1007/s11011-021-00827-z

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