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

Marten, Lara M; Brinkert, Florian; Smith, Desirée E C; Prokisch, Holger; Hempel, Maja; Santer, René

Marten, Lara M; Brinkert, Florian; Smith, Desirée E C; Prokisch, Holger; Hempel, Maja; Santer, René.

Afiliação

Marten LM; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Brinkert F; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Smith DEC; Department of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Prokisch H; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Hempel M; Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany.
Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.

Mol Genet Metab Rep ; 25: 100681, 2020 Dec.

Article em En | MEDLINE | ID: mdl-33294374

Palavras-chave

AARS1; AARS1, alanyl-(aminoacyl)-tRNA synthetase-1; Aminoacylation; Metabolic disease; PICU, pediatric intensive care unit; Protein biosynthesis; Recurrent acute liver failure; aaRS, aminoacyl-tRNA synthetase; mtDNA, mitochondrial DNA; nDNA, nuclear DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos

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