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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Barbosa-Gouveia, Sofia; González-Vioque, Emiliano; Hermida, Álvaro; Suarez, María Unceta; Martínez-González, María Jesús; Borges, Filipa; Wintjes, Liesbeth; Kappen, Antonia; Rodenburg, Richard; Couce, María-Luz.
Afiliação
  • Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), 15
  • González-Vioque E; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), 15
  • Hermida Á; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), 15
  • Suarez MU; Biochemistry Laboratory (Metabolic Diseases Unit) & Department of Pediatrics (Pediatric Neurology), Cruces University Hospital, 48903 Bizkaia, Spain.
  • Martínez-González MJ; Biochemistry Laboratory (Metabolic Diseases Unit) & Department of Pediatrics (Pediatric Neurology), Cruces University Hospital, 48903 Bizkaia, Spain.
  • Borges F; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), 15
  • Wintjes L; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.
  • Kappen A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.
  • Rodenburg R; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.
  • Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), 15
Genes (Basel) ; 11(9)2020 09 02.
Article em En | MEDLINE | ID: mdl-32887222
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Ácido Láctico / Leucoencefalopatias / Glutamato-tRNA Ligase Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Ácido Láctico / Leucoencefalopatias / Glutamato-tRNA Ligase Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article