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The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort.

European Journal of Medical Genetics, 2019
BACKGROUND Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the ABCC6-gene and associated with severe visual impairment and peripheral arterial disease. Given the progress in development of
G. Kranenburg   +5 more
semanticscholar   +3 more sources

Pseudoxanthoma Elasticum

New England Journal of Medicine, 1994
E A, Grossi, P, Pasternack
openaire   +4 more sources

RECURRENCE OF ACUTE RETINOPATHY IN PSEUDOXANTHOMA ELASTICUM

Retinal cases & brief reports, 2022
A man in his 40s diagnosed with pseudoxanthoma elasticum presented with recurrent episodes of acute retinopathy. His clinical presentation and multimodal imaging findings are described.
P. Ramtohul   +3 more
semanticscholar   +1 more source

Peripheral interventions in patients with pseudoxanthoma elasticum (PXE).

European Journal of Vascular and Endovascular Surgery, 2022
OBJECTIVES Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that may be associated with a high prevalence of peripheral artery disease (PAD) and related symptoms.
M. Verwer   +3 more
semanticscholar   +1 more source

Clinical practice guidelines for pseudoxanthoma elasticum (2017)

Journal of dermatology (Print), 2022
Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease that affects tissues such as the skin, retina, blood vessels, and gastrointestinal tracts. Therefore, comprehensive medical care across clinical departments specialized in specific organs
Akira Iwanaga   +17 more
semanticscholar   +1 more source

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