title: Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
authors.affiliation: Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Peter
authors.initials: P
authors.lastname: Witters
authors.affiliation: Department of Pediatric Neurology and Metabolic Center, UZ Brussel, Brussels, Belgium.
authors.forename: Luc
authors.initials: L
authors.lastname: Régal
authors.affiliation: Department of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.affiliation: Department of Pediatric Neurology and Metabolic Center, UZ Brussel, Brussels, Belgium.
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.affiliation: Department of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.affiliation: Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities / Q000235:genetics*; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D006801:Humans
chemical_list: D000074183:ATPases Associated with Diverse Cellular Activities; C490759:PEX6 protein, human