Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

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第一作者： Ivan,Shelihan

第一单位： Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.

作者： Ivan,Shelihan ^[1] ; Elsa,Rossignol ^[2] ; Jean-Claude,Décarie ^[3] ; Jean-Paul,Bonnefont ^[4] ; Michèle,Brivet ^[4] ; Catherine,Brunel-Guitton ^[5] ; Grant A,Mitchell ^[1]

作者单位： Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada. ^[1] Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.;Department of Neurosciences CHU Sainte-Justine and Université de Montréal Montreal, QC Quebec Canada. ^[2] Department of Medical Imaging CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada. ^[3] Medical Genetics Federation Necker Enfants Malades Hospital and IMAGINE Institute Paris France. ^[4] Biochemical Diseases, Department of Pediatrics, Faculty of Medicine University of British Columbia, BC Children's Hospital Vancouver British Columbia. ^[5]

关键词 CPT2 carnitine cerebral heterotopias infantile malformation palmitoyltransferase polymicrogyria

DOI 10.1002/jmd2.12243

PMID 35028265

发布时间 2023-09-17

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