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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...
Autores principales: | Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691605/ https://www.ncbi.nlm.nih.gov/pubmed/33294374 http://dx.doi.org/10.1016/j.ymgmr.2020.100681 |
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