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Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

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第一作者： Joo-Hyun,Seo

第一单位： Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

作者： Joo-Hyun,Seo ^[1] ; Torayuki,Okuyama ^[2] ; Elsa,Shapiro ^[3] ; Yasuyuki,Fukuhara ^[4] ; Motomichi,Kosuga ^[4]

作者单位： Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan. ^[1] Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.;Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan. ^[2] Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, MN 55455, United States of America. ^[3] Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan. ^[4]

关键词 AEq, age equivalent scores BSID-III, Bayley Scale of Infant Development- Third Edition CA, chronological age Cognitive natural history Developmental age Genotype Hunter syndrome KSPD, Kyoto Scale of Psychological Development Kyoto Scale of Psychological Development Mucopolysaccharidosis type II

DOI 10.1016/j.ymgmr.2020.100630

PMID 32775211

发布时间 2024-03-29

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Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

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Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

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