Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

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第一作者： Tara,Weixel

第一单位： National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.;Department of Psychological Sciences, Kent State University, Kent, Ohio, USA.

作者： Tara,Weixel ^[1] ; Dee,Adedipe ^[2] ; Glennis,Muldoon ^[3] ; Christina,Lam ^[4] ; Donna,Krasnewich ^[5] ; Audrey,Thurm ^[6] ; Lynne,Wolfe ^[7]

作者单位： National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.;Department of Psychological Sciences, Kent State University, Kent, Ohio, USA. ^[1] Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA.;Nisonger Center, The Ohio State University, Columbus, Ohio, USA. ^[2] Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA.;Social Work, Boston, Massachusetts, USA. ^[3] Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA. ^[4] National Institute of General Medical Sciences, National Institutes of Health, Bethesda, Maryland, USA. ^[5] Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institute of Mental Health, Bethesda, Maryland, USA. ^[6] National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. ^[7]

关键词 congenital disorders of glycosylation intellectual disability neurodevelopment neuropsychological assessment phosphomannomutase deficiency