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Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings.

作者信息

Durães João, Salsano Ettore, Macário Maria do Carmo

机构信息

Department of Neurology (JD, MCM), Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; and Unit of Rare Neurodegenerative and Neurometabolic Diseases (ES), Fondazione IRCCS Istituto Neurologico "C. Besta", Milano, Italy.

出版信息

Neurol Clin Pract. 2021 Feb;11(1):e15-e17. doi: 10.1212/CPJ.0000000000000780.

DOI:10.1212/CPJ.0000000000000780
PMID:33968482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8101315/
Abstract
摘要

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2
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study.克拉伯病脐血移植的发育结局:一项15年的研究。
Neurology. 2017 Sep 26;89(13):1365-1372. doi: 10.1212/WNL.0000000000004418. Epub 2017 Aug 30.
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History, genetic, and recent advances on Krabbe disease.克拉贝病的历史、遗传学及近期进展
Gene. 2015 Jan 15;555(1):2-13. doi: 10.1016/j.gene.2014.09.046. Epub 2014 Sep 26.
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A practical approach to diagnosing adult onset leukodystrophies.诊断成人起病性脑白质营养不良的实用方法。
J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):770-81. doi: 10.1136/jnnp-2013-305888. Epub 2013 Dec 19.
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Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.成人型克拉伯病:11 例患者的表型和基因型更新及综述
J Inherit Metab Dis. 2013 Sep;36(5):859-68. doi: 10.1007/s10545-012-9560-4. Epub 2012 Nov 30.
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Invited article: an MRI-based approach to the diagnosis of white matter disorders.特邀文章:基于磁共振成像的白质疾病诊断方法
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Myelopathy but normal MRI: where next?
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