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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M; Sharma, Reena; Morris, Andrew A M; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Bernhardt, Isaac; Sudakhar, Sniya; Chan, Alicia; Mills, Philippa; Ridout, Debora; Gissen, Paul; Dionisi-Vici, Carlo; Baruteau, Julien.
Afiliação
  • Elkhateeb N; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Olivieri G; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK.
  • Siri B; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Boyd S; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Stepien KM; Department of Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Sharma R; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
  • Morris AAM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
  • Hartley T; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
  • Crowther L; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
  • Grunewald S; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
  • Cleary M; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Mundy H; University College London Great Ormond Street Institute of Child Health, London, UK.
  • Chakrapani A; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK.
  • Lachmann R; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Murphy E; Evelina London Children's Hospital, St Thomas's Hospital, London, UK.
  • Santra S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Uudelepp ML; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Yeo M; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Bernhardt I; Department of Paediatric Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK.
  • Sudakhar S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Chan A; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Mills P; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Ridout D; Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Gissen P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
  • Dionisi-Vici C; University College London Great Ormond Street Institute of Child Health, London, UK.
  • Baruteau J; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK.
Epilepsia ; 64(6): 1612-1626, 2023 06.
Article em En | MEDLINE | ID: mdl-36994644
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Acidúria Argininossuccínica Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Acidúria Argininossuccínica Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article