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Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith, Amanda; McBride, Skye; Marcadier, Julien L; Michaud, Jean; Al-Dirbashi, Osama Y; Schwartzentruber, Jeremy; Beaulieu, Chandree L; Katz, Sherri L; Majewski, Jacek; Bulman, Dennis E; Geraghty, Michael T; Harper, Mary-Ellen; Chakraborty, Pranesh; Lines, Matthew A.
Afiliação
  • Smith A; Ottawa Hospital Research Institute, Ottawa, ON, Canada.
  • McBride S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Marcadier JL; Ottawa Hospital Research Institute, Ottawa, ON, Canada.
  • Michaud J; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Al-Dirbashi OY; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
  • Schwartzentruber J; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Beaulieu CL; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.
  • Katz SL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Majewski J; Division of Respirology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Geraghty MT; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.
  • Harper ME; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Chakraborty P; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Lines MA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
JIMD Rep ; 30: 73-79, 2016.
Article em En | MEDLINE | ID: mdl-27306203
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article