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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...
Autores principales: | Kuzaj, Patricia, Kuhn, Joachim, Michalek, Ryan D., Karoly, Edward D., Faust, Isabel, Dabisch-Ruthe, Mareike, Knabbe, Cornelius, Hendig, Doris |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |
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