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Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency.

作者信息

Esposito Silvia, Moscatelli Marco, Caccia Claudio, Granocchio Elisa, Pantaleoni Chiara, Ardissone Anna, Gellera Cinzia, Farina Laura

机构信息

From the Developmental Neurology Unit (S.E., E.G., C.P.), Neuroradiology Department (M.M., L.F.), Unit of Medical Genetics and Neurogenetics (C.C., C.G.), and Unit of Child Neurology (A.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; and Neuroimaging Laboratory (L.F.), IRCCS Fondazione Santa Lucia, Rome, Italy.

出版信息

Neurology. 2020 Oct 20;95(16):e2316-e2317. doi: 10.1212/WNL.0000000000010367. Epub 2020 Jul 17.

DOI:10.1212/WNL.0000000000010367
PMID:32680940
Abstract
摘要

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引用本文的文献

1
Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.13 例琥珀酸半醛脱氢酶缺乏症患者的临床特征和 ALDH5A1 基因研究
BMC Med Genomics. 2024 Jun 11;17(1):158. doi: 10.1186/s12920-024-01925-4.