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Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
Pereira, Sandra; Adrião, Mariana; Sampaio, Mafalda; Basto, Margarida Ayres; Rodrigues, Esmeralda; Vilarinho, Laura; Teles, Elisa Leão; Alonso, Isabel; Leão, Miguel.
Afiliación
  • Pereira S; Department of Pediatrics, Centro Hospitalar São João (CHSJ), Porto, Portugal. sandravdpereira@gmail.com.
  • Adrião M; Department of Pediatrics, Centro Hospitalar São João (CHSJ), Porto, Portugal.
  • Sampaio M; Department of Pediatrics, Centro Hospitalar São João (CHSJ), Porto, Portugal.
  • Basto MA; Neuropediatric Unit, Department of Pediatrics, CHSJ, Porto, Portugal.
  • Rodrigues E; Department of Neuroradiology, CHSJ, Porto, Portugal.
  • Vilarinho L; Department of Pediatrics, Centro Hospitalar São João (CHSJ), Porto, Portugal.
  • Teles EL; Metabolic Diseases Unit, Department of Pediatrics, CHSJ, Porto, Portugal.
  • Alonso I; Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr. Ricardo Jorge, Porto, Portugal.
  • Leão M; Department of Pediatrics, Centro Hospitalar São João (CHSJ), Porto, Portugal.
JIMD Rep ; 42: 113-119, 2018.
Article en En | MEDLINE | ID: mdl-29478218
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2018 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2018 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Estados Unidos