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Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Wongkittichote, Parith; Magistrati, Martina; Shimony, Joshua S; Smyser, Christopher D; Fatemi, Seyed Ali; Fine, Amena S; Bellacchio, Emanuele; Dallabona, Cristina; Shinawi, Marwan.
  • Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA.
  • Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Shimony JS; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA.
  • Smyser CD; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.
  • Fatemi SA; Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA.
  • Fine AS; Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA.
  • Bellacchio E; Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.
Mol Genet Metab ; 136(4): 260-267, 2022 08.
Article en En | MEDLINE | ID: mdl-35820270
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Aspartato-ARNt Ligasa / Leucoencefalopatías Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Aspartato-ARNt Ligasa / Leucoencefalopatías Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article