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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Bibliografiske detaljer

Principais autores:	Patricia Kuzaj, Joachim Kuhn, Ryan D Michalek, Edward D Karoly, Isabel Faust, Mareike Dabisch-Ruthe, Cornelius Knabbe, Doris Hendig
Format:	Artigo
Sprog:	Inglês
Udgivet:	Public Library of Science (PLoS) 2014-01-01
Serier:	PLoS ONE
Online adgang:	https://doi.org/10.1371/journal.pone.0108336
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