Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.

Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers. We used an untargeted metabolic approach to identify biochemical differences between human dermal fibrobl...

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Bibliographic Details
Main Authors: Patricia Kuzaj, Joachim Kuhn, Ryan D Michalek, Edward D Karoly, Isabel Faust, Mareike Dabisch-Ruthe, Cornelius Knabbe, Doris Hendig
Format: article
Language:EN
Published: Public Library of Science (PLoS) 2014
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Online Access:https://doaj.org/article/2e0962879a3d4336ac5b4518d8b8c4e1
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