Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype

Background: Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PP(i)). It is unknown how ABCC6 genotype affects plasma P...

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Detalles Bibliográficos
Autores principales: Kozák, Eszter, Bartstra, Jonas W., de Jong, Pim A., Mali, Willem P. T. M., Fülöp, Krisztina, Tőkési, Natália, Pomozi, Viola, Risseeuw, Sara, Norel, Jeannette Ossewaarde-van, van Leeuwen, Redmer, Váradi, András, Spiering, Wilko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917606/
https://www.ncbi.nlm.nih.gov/pubmed/36769695
http://dx.doi.org/10.3390/jcm12031047

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