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Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald, Susanne L; Steinbrücker, Katja; Achleitner, Melanie T; Göschl, Elisabeth; Bittner, Reginald E; Schmidt, Wolfgang M; Tiefenthaler, Elke; Hammerl, Emma; Eisl, Anna; Mayr, Doris; Mayr, Johannes A; Wortmann, Saskia B.
Afiliação
  • Oswald SL; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Steinbrücker K; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Achleitner MT; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Göschl E; Moedling Hospital, Moedling, Austria.
  • Bittner RE; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
  • Schmidt WM; Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
  • Tiefenthaler E; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Hammerl E; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Eisl A; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Mayr D; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
Neuropediatrics ; 54(5): 351-355, 2023 10.
Article em En | MEDLINE | ID: mdl-36603837
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina-tRNA Ligase Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina-tRNA Ligase Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article