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. 2017 Jul 21;7:6149. doi: 10.1038/s41598-017-06604-2

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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TIC (total ion chromatogram) profile of C26-ceramide isoforms in samples from genetically confirmed Farber patient vs normal control: (A)-in DBS; (B)-in clear plasma. In DBS, both isoforms were present in both samples from healthy controls (blue) and Farber patients (red), the two internal standards are represented in grey. Isoform 1 was dominant in the Farber samples, while isoform 2 was dominant in healthy controls.