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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala, Dulika; Strømme, Petter; Fattahi, Zohreh; Lüders, Torben; Sheng, Ying; Kahrizi, Kimia; Einarsen, Ingunn Holm; Sloan, Jennifer L; Najmabadi, Hossein; van den Heuvel, Lambert; Wevers, Ron A; Guerrero-Castillo, Sergio; Mørkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P; van Karnebeek, Clara D; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana.
Affiliation
  • Sumathipala D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Strømme P; Division of Pediatric and Adolescent Medicine, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Fattahi Z; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Lüders T; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Sheng Y; Department of Clinical Molecular Biology, Section of Clinical Molecular Biology (EpiGen), University of Oslo and Akershus University Hospital, Lørenskog, Norway.
  • Kahrizi K; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Einarsen IH; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Sloan JL; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Najmabadi H; Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • van den Heuvel L; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Wevers RA; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Guerrero-Castillo S; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Mørkrid L; United for Metabolic Disease-UMD, The Netherlands.
  • Valayannopoulos V; University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.
  • Backe PH; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
  • Venditti CP; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • van Karnebeek CD; Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France.
  • Nilsen H; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
  • Frengen E; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
  • Misceo D; Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
Brain ; 145(7): 2602-2616, 2022 07 29.
Article in En | MEDLINE | ID: mdl-35104841
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Metabolism, Inborn Errors / Nervous System Malformations Limits: Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Norway Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Metabolism, Inborn Errors / Nervous System Malformations Limits: Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Norway Country of publication: United kingdom