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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf, Joseph P; Wiame, Elsa; Dorboz, Imen; Elmaleh-Bergès, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnès; Helaers, Raphaël; Malla, Alisha; Renaldo, Florence; Boespflug-Tanguy, Odile; Vincent, Marie-Françoise; Benoist, Jean-François; Wevers, Ron A; Schlessinger, Avner; Van Schaftingen, Emile; Nassogne, Marie-Cécile; Schiff, Manuel.
Afiliação
  • Dewulf JP; Laboratory of Physiological Chemistry, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
  • Wiame E; Walloon Excellence in Life Sciences and Biotechnology (WELBIO), Brussels, Belgium.
  • Dorboz I; Department of Laboratory Medicine, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
  • Elmaleh-Bergès M; Laboratory of Physiological Chemistry, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
  • Imbard A; Walloon Excellence in Life Sciences and Biotechnology (WELBIO), Brussels, Belgium.
  • Dumitriu D; UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
  • Rak M; Department of Pediatric Imaging, Robert Debré University Hospital, Public APHP, Paris, France.
  • Bourillon A; Laboratory of Biochemistry, Robert Debré University Hospital, APHP, France.
  • Helaers R; Paris-Sud University, Châtenay-Malabry, France.
  • Malla A; Department of Pediatric Imaging, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
  • Renaldo F; UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
  • Boespflug-Tanguy O; Laboratory of Biochemistry, Robert Debré University Hospital, APHP, France.
  • Vincent MF; Paris-Sud University, Châtenay-Malabry, France.
  • Benoist JF; Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
  • Wevers RA; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Schlessinger A; UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
  • Van Schaftingen E; Department of Pediatric Neurology and Metabolic Diseases, Robert Debré University Hospital, APHP, Paris, France.
  • Nassogne MC; Reference Center for Leukodystrophies and Rare Leukoencephalopathies, LEUKOFRANCE, Robert Debré University Hospital, APHP, Paris, France.
  • Schiff M; UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
Ann Neurol ; 85(3): 385-395, 2019 03.
Article em En | MEDLINE | ID: mdl-30635937
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Aspártico / Simportadores / Leucoencefalopatias / Ácidos Cetoglutáricos Limite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Aspártico / Simportadores / Leucoencefalopatias / Ácidos Cetoglutáricos Limite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica