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ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky, Rebecca D; Bloom, Kaitlyn; Ahrens-Nicklas, Rebecca; Edmondson, Andrew; Deardorff, Matthew A; Bennett, Michael J; Ficicioglu, Can.
Afiliação
  • Ganetzky RD; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.
  • Bloom K; Department of Pathology and Laboratory Medicine, Michael Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Ahrens-Nicklas R; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.
  • Edmondson A; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.
  • Deardorff MA; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.
  • Bennett MJ; Department of Pathology and Laboratory Medicine, Michael Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Ficicioglu C; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA. ficicioglu@email.chop.edu.
JIMD Rep ; 30: 33-37, 2016.
Article em En | MEDLINE | ID: mdl-26920905
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2016 Tipo de documento: Article