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Article

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.

Experimental dermatology - 1 Apr 2022

Kozák Eszter, Fülöp Krisztina, Tőkési Natália, Rao Nidhi, Li Qiaoli, Terry Sharon F, Uitto Jouni, Zhang Xiaoming, Becker Cyrus, Váradi András, Pomozi Viola

Abstract excerpt

Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare heritable multisystem disorder, characterized by ectopic mineralization affecting elastic fibres in the skin, eyes and the cardiovascular system. Skin findings often lead to early diagnosis of PXE, but currently, no specific treatment exists to counteract the progression of symptoms. PXE belongs to a group of Mendelian calcification disorders linked to...

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PMID: 34758173
DOI: 10.1111/exd.14498
PMCID: PMC8977233

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