Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic <i>ABCC6</i> mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of inorganic pyrophosphate (PPi)—a po...

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Bibliographic Details
Main Authors: Matthias Van Gils, Justin Depauw, Paul J. Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, Olivier M. Vanakker
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Journal of Clinical Medicine
Subjects:
<i>ABCC6</i>
heterozygous carriers
inorganic pyrophosphate
pseudoxanthoma elasticum
genotype–phenotype correlation
biomarker
Online Access:https://www.mdpi.com/2077-0383/12/5/1893

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https://www.mdpi.com/2077-0383/12/5/1893

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