马斯特里赫特大学医学中心小纤维神经病变患者法布里病分析数据集

资源简介

马斯特里赫特大学医学中心小纤维神经病变患者法布里病分析数据集

【数据集背景】

本数据集源站标题为《Small fiber neuropathy patients analyzed for Fabry disease in the Maastricht University Medical Center.》。配套论文《No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy》发表于 PLOS ONE（2016），DOI：10.1371/journal.pone.0148316。源站首次发布：2016-02-11。

【数据内容】

源站原始描述：Illustration of the outcome of investigations to confirm the diagnosis of Fabry disease. α-Gal A: α-galactosidase A, Lyso-GB3: lysosomal globotriaosylceramide, FD: Fabry disease, SFN: small fiber neuropathy. a Missing data. b The measurement of lyso-GB3 excretion in urine was incorporated in our workflow for SFN patients from April 2012. c GLA gene sequencing was performed in all women, and in males in case of reduced α-Gal A enzyme activity. d These includes the class 2 variants (unlikely to be…

【数据结构与技术规格】

文件数 1 个，合计 1.20 MB。Fig 2.tif：image/tiff，1.20 MB。数据集 DOI：10.1371/journal.pone.0148316.g002。

【主题与分类】

源站学科分类：Medicine、Cell Biology、Genetics、Molecular Biology、Neuroscience、Biotechnology。主题标签：GLA gene mutations.Results 725 patients、Fabry disease.ConclusionsIn patients、fiber neuropathy patients、diagnosis Fabry disease、fiber neuropathy、Fiber Neuropathy ObjectiveScreening、GLA gene variant、Fabry disease。

【适用方向】

源站学科分类标注为 Medicine、Cell Biology、Genetics、Molecular Biology、Neuroscience、Biotechnology。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Small_fiber_neuropathy_patients_analyzed_for_Fabry_disease_in_the_Maastricht_University_Medical_Center_/1644922

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：T. A. de Greef, Bianca; G. J. Hoeijmakers, Janneke; E. Wolters, Emma; J. M. Smeets, Hubertus; van den Wijngaard, Arthur; S. J. Merkies, Ingemar; et al. (2016). Small fiber neuropathy patients analyzed for Fabry disease in the Maastricht University Medical Center.. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-02，引用时请注意版本时效。