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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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Detalles Bibliográficos
Autores principales: Kuzaj, Patricia, Kuhn, Joachim, Michalek, Ryan D., Karoly, Edward D., Faust, Isabel, Dabisch-Ruthe, Mareike, Knabbe, Cornelius, Hendig, Doris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181624/
https://www.ncbi.nlm.nih.gov/pubmed/25265166
http://dx.doi.org/10.1371/journal.pone.0108336