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 ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of inorganic pyrophosphate (PPi)—a potent mineralization...

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Detalles Bibliográficos
Autores principales: Van Gils, Matthias, Depauw, Justin, Coucke, Paul J., Aerts, Shari, Verschuere, Shana, Nollet, Lukas, Vanakker, Olivier M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003929/
https://www.ncbi.nlm.nih.gov/pubmed/36902680
http://dx.doi.org/10.3390/jcm12051893

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