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

Shelihan, Ivan; Rossignol, Elsa; Décarie, Jean-Claude; Bonnefont, Jean-Paul; Brivet, Michèle; Brunel-Guitton, Catherine; Mitchell, Grant A

Shelihan, Ivan; Rossignol, Elsa; Décarie, Jean-Claude; Bonnefont, Jean-Paul; Brivet, Michèle; Brunel-Guitton, Catherine; Mitchell, Grant A.

Afiliação

Shelihan I; Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.
Rossignol E; Divisions of Medical Genetics (IS, CBG, GM) and Neurology (ER), Department of Pediatrics CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.
Décarie JC; Department of Neurosciences CHU Sainte-Justine and Université de Montréal Montreal, QC Quebec Canada.
Bonnefont JP; Department of Medical Imaging CHU Sainte-Justine and Université de Montréal Montreal Quebec Canada.
Brivet M; Medical Genetics Federation Necker Enfants Malades Hospital and IMAGINE Institute Paris France.
Brunel-Guitton C; Medical Genetics Federation Necker Enfants Malades Hospital and IMAGINE Institute Paris France.
Mitchell GA; Biochemical Diseases, Department of Pediatrics, Faculty of Medicine University of British Columbia, BC Children's Hospital Vancouver British Columbia.

JIMD Rep ; 63(1): 3-10, 2022 Jan.

Article em En | MEDLINE | ID: mdl-35028265

Palavras-chave

CPT2; carnitine; cerebral; heterotopias; infantile; malformation; palmitoyltransferase; polymicrogyria

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Systematic_reviews Idioma: En Revista: JIMD Rep Ano de publicação: 2022 Tipo de documento: Article

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