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Article

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

PloS one - 1 Jan 2014

Kuzaj Patricia, Kuhn Joachim, Michalek Ryan D, Karoly Edward D, Faust Isabel, Dabisch-Ruthe Mareike, Knabbe Cornelius, Hendig Doris

Abstract excerpt

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 fibr...

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Identifiers

PMID: 25265166
DOI: 10.1371/journal.pone.0108336
PMCID: PMC4181624

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25265166-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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