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Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation.

作者信息

Pedroso José Luiz, Handfas Benjamin W, Abrahão Agessandro, Kok Fernando, Barsottini Orlando G P, Oliveira Acary S Bulle

机构信息

From the Universidade Federal de São Paulo (J.L.P., A.A., O.G.P.B., A.S.B.O.); Hospital Israelita Albert Einstein (B.W.H.); and Mendelics Genomic Analysis (F.K.), São Paulo, Brazil.

出版信息

Neurology. 2015 Mar 3;84(9):960-1. doi: 10.1212/WNL.0000000000001316.

DOI:10.1212/WNL.0000000000001316
PMID:25732363
Abstract
摘要

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Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.遗传性痉挛性截瘫的神经影像学：当前应用与未来展望
Front Neurol. 2019 Jan 16;9:1117. doi: 10.3389/fneur.2018.01117. eCollection 2018.
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Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.
伴有脂肪酸2-羟化酶基因新突变的35型遗传性痉挛性截瘫及临床特征文献综述
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