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L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.
Soto, David; Olivella, Mireia; Grau, Cristina; Armstrong, Judith; Alcon, Clara; Gasull, Xavier; Santos-Gómez, Ana; Locubiche, Sílvia; Gómez de Salazar, Macarena; García-Díaz, Roberto; Gratacòs-Batlle, Esther; Ramos-Vicente, David; Chu-Van, Emeline; Colsch, Benoit; Fernández-Dueñas, Víctor; Ciruela, Francisco; Bayés, Àlex; Sindreu, Carlos; López-Sala, Anna; García-Cazorla, Àngels; Altafaj, Xavier.
Affiliation
  • Soto D; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.
  • Olivella M; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.
  • Grau C; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.
  • Armstrong J; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic 08500, Spain.
  • Alcon C; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain.
  • Gasull X; Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu and CIBERER, Barcelona 08950, Spain.
  • Santos-Gómez A; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.
  • Locubiche S; Department of Clinical Foundations, University of Barcelona, Barcelona 08036, Spain.
  • Gómez de Salazar M; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.
  • García-Díaz R; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.
  • Gratacòs-Batlle E; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.
  • Ramos-Vicente D; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain.
  • Chu-Van E; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain.
  • Colsch B; Bellvitge Biomedical Research Institute (IDIBELL)-Unit of Neuropharmacology and Pain, University of Barcelona, Barcelona 08908, Spain.
  • Fernández-Dueñas V; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.
  • Ciruela F; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.
  • Bayés À; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.
  • Sindreu C; Grupo de Investigación en Química y Biotecnología (QUIBIO), Universidad de Santiago de Cali, Santiago de Cali 760035, Colombia.
  • López-Sala A; Institute of Neurosciences, University of Barcelona, Barcelona 08036, Spain.
  • García-Cazorla À; Department of Biomedicine, University of Barcelona, Barcelona 08036, Spain.
  • Altafaj X; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona 08036, Spain.
Sci Signal ; 12(586)2019 06 18.
Article in En | MEDLINE | ID: mdl-31213567
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Full text: 1 Database: MEDLINE Main subject: Serine / Brain Diseases / Rett Syndrome / Receptors, N-Methyl-D-Aspartate / Dietary Supplements / Loss of Function Mutation Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Sci Signal Year: 2019 Type: Article Affiliation country: Spain
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Serine / Brain Diseases / Rett Syndrome / Receptors, N-Methyl-D-Aspartate / Dietary Supplements / Loss of Function Mutation Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Sci Signal Year: 2019 Type: Article Affiliation country: Spain