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Article

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.

Orphanet journal of rare diseases - 7 May 2022

Pelttari Saku, Väärämäki Suvi, Vanakker Olivier, Verschuere Shana, Uusitalo Hannu, Huhtala Heini, Hinkka Tero, Pörsti Ilkka, Nevalainen Pasi I

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical...

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Identifiers

PMID: 35525997
DOI: 10.1186/s13023-022-02341-6
PMCID: PMC9077871

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