Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-ex...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691605/
https://ncbi.nlm.nih.gov/pubmed/33294374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100681
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