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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley, Jessica R C; Pace, Lisa M; Sen, Kuntal; Aggarwal, Anjali; Alves, Cesar Augusto P F; Campbell, Ian M; Cuddapah, Sanmati R; Engelhardt, Nicole M; Eskandar, Marina; Jolín García, Paloma C; Gropman, Andrea; Helbig, Ingo; Hong, Xinying; Gowda, Vykuntaraju K; Lusk, Laina; Trapane, Pamela; Srinivasan, Varunvenkat M; Suwannarat, Pim; Ganetzky, Rebecca D.
Afiliación
  • Priestley JRC; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pace LM; Department of Pediatrics, University of Florida College of Medicine, Jacksonville, FL, USA.
  • Sen K; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA.
  • Aggarwal A; Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
  • Alves CAPF; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Cuddapah SR; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Engelhardt NM; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Eskandar M; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Jolín García PC; Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gropman A; Division of Child Neurology, Children's National Hospital, Washington D.C., USA.
  • Helbig I; Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hong X; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA.
  • Gowda VK; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Trapane P; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
  • Suwannarat P; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ganetzky RD; Division of Pediatric Genetics, Department of Genetics, University of Florida College of Medicine, Jacksonville, FL, USA.
Mol Genet Metab Rep ; 33: 100931, 2022 Dec.
Article en En | MEDLINE | ID: mdl-36420423
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: 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 Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos