A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome

Overview of attention for article published in Rinshō shinkeigaku Clinical neurology, May 2016

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"（ニーマン・ピック病C型の）若年発症の垂直性核上性注視麻痺は特異度の高い症状であり，初期には衝動性眼球運動が下方視優位に障害され滑動性追従眼球運動は相対的に保たれることが多い。精神症状，小脳失調，カタプレキシーを合併する際には，NPCを疑うことが重要である" https://t.co/7jSUTqRK2C

23 May 2021

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PubMed: A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. https://t.co/DLsWmg96lg

25 Mar 2017

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A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. https://t.co/ng9GkfMQC3

24 Mar 2017

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