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Article

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.

International journal of molecular sciences - 17 Dec 2019

Letavernier Emmanuel, Bouderlique Elise, Zaworski Jeremy, Martin Ludovic, Daudon Michel

Abstract excerpt

Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders...

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Identifiers

PMID: 31861118
DOI: 10.3390/ijms20246353
PMCID: PMC6940945

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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