Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.

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第一作者： M,Strijker

第一单位： Department of Paediatric Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

作者： M,Strijker ^[1] ; L A,Tseng ^[2] ; L K,van Avezaath ^[1] ; M A M,Oude Luttikhuis ^[1] ; T,Ketelaar ^[1] ; C R,Coughlin ^[3] ; M A,Coenen ^[4] ; F J,van Spronsen ^[5] ; M,Williams ^[6] ; M C,de Vries ^[7] ; H E,Westerlaan ^[8] ; L A,Bok ^[9] ; C D M,van Karnebeek ^[10] ; R J,Lunsing ^[11]

作者单位： Department of Paediatric Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. ^[1] Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centres, Amsterdam, the Netherlands. ^[2] Department of Pediatrics - Clinical Genetics and Metabolism, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO, USA. ^[3] Department of Neuropsychology, University Medical Center Groningen, Groningen, the Netherlands. ^[4] Department of Metabolic Diseases, University of Groningen, Beatrix Children's Hospital, University Medical Center Groningen, the Netherlands. ^[5] Department of Pediatrics. Center for Lysosomal and Metabolic Diseases. Erasmus University Medical Center, Rotterdam, the Netherlands. ^[6] Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. ^[7] Medical Imaging Center, Department of Radiology, University Medical Center Groningen, Groningen, the Netherlands. ^[8] Department of Paediatrics, STZ Expertise Center for PDE, Máxima Medical Center, Veldhoven, the Netherlands. ^[9] Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centres, Amsterdam, the Netherlands; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Clara.vanKarnebeek@radboudumc.nl. ^[10] Department of Paediatric Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Electronic address: r.j.lunsing@umcg.nl. ^[11]

关键词 Intellectual disability Lysine reduction therapies MRI Neurological outcome Pyridoxine-dependent epilepsy Vitamin B6