Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.

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作者： Laetitia,Paermentier ^[1] ; Aline,Cano ^[2] ; Brigitte,Chabrol ^[3] ; Arnaud,Roy ^[4]

作者单位： Reference Center of Hereditary Metabolic Diseases, AP-HM, La Timone University Hospital, 264 rue Saint Pierre, 13005, Marseille, France. laetitia.paermentier@ap-hm.fr. ^[1] Department of Paediatric Neurometabolism, AP-HM, La Timone University Hospital, 264 rue Saint Pierre, 13005, Marseille, France. laetitia.paermentier@ap-hm.fr. ^[2] Pays de la Loire Psychology Laboratory, EA4638, Faculty of Arts, Languages and Humanities, University of Angers, 49000, Angers, France. laetitia.paermentier@ap-hm.fr. ^[3] Reference Center of Hereditary Metabolic Diseases, AP-HM, La Timone University Hospital, 264 rue Saint Pierre, 13005, Marseille, France. ^[4] Department of Paediatric Neurometabolism, AP-HM, La Timone University Hospital, 264 rue Saint Pierre, 13005, Marseille, France. ^[5] Pays de la Loire Psychology Laboratory, EA4638, Faculty of Arts, Languages and Humanities, University of Angers, 49000, Angers, France. ^[6] Learning Disabilities Referral Center and Nantes Neurofibromatosis Competence Center, for Women, Children and Adolescents, Nantes University Hospital, 44000, Nantes, France. ^[7]

关键词 BRIEF-P Executive function Hyperphenylalaninemia Moderate hyperphenylalaninemia Phenylketonuria Preschool children

主题词人类(Humans);执行功能(Executive Function);前瞻性研究(Prospective Studies);苯丙酮尿症(Phenylketonurias);记忆, 短时(Memory, Short-Term);表型(Phenotype)

DOI 10.1186/s13023-023-02764-9

PMID 37400895

发布时间 2023-07-06

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