Results 21 to 30 of about 1,540 (169)

PXE, a Mysterious Inborn Error Clarified [PDF]

Trends in Biochemical Sciences, 2019
Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape.
Piet, Borst, András, Váradi, Koen, van de Wetering   +2 more
openaire   +2 more sources

The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum. [PDF]

PLoS ONE, 2014
The contribution of arterial calcification (AC) in peripheral arterial disease (PAD) and arterial wall compressibility is a matter of debate. Pseudoxanthoma elasticum (PXE), an inherited metabolic disease due to ABCC6 gene mutations, combines elastic ...
Georges Leftheriotis, Gilles Kauffenstein, Jean François Hamel, Pierre Abraham, Olivier Le Saux, Serge Willoteaux, Daniel Henrion, Ludovic Martin   +7 more
doaj   +1 more source

The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases

Insights into Imaging, 2018
Objectives Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, characterised by elastic fibre degeneration and calcifications in multiple organ systems.
Annelotte Vos, Guido Kranenburg, Pim A. de Jong, Willem P. T. M. Mali, Wim Van Hecke, Ronald L. A. W. Bleys, Ivana Isgum, Aryan Vink, Wilko Spiering   +8 more
doaj   +1 more source

Left ventricular function in a large cohort of pseudoxanthoma elasticum patients. [PDF]

PLoS ONE, 2014
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder characterized by the mineralization and fragmentation of elastic fibers in the skin, retina, and vascular walls.
Loïc Bière, Erwan Donal, Gwenola Terrien, Alain Furber, Ludovic Martin, Fabrice Prunier   +5 more
doaj   +1 more source

Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE)

European Journal of Vascular and Endovascular Surgery, 2023
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. However, the evidence supporting this association is weak, as only small cohort studies are available.
M.C. Verwer, C.E.V.B. Hazenberg, W. Spiering, G.J. de Borst   +3 more
openaire   +4 more sources

Pseudoxanthoma Elasticum With Detailed Analyses of Coronary Artery Disease

JACC: Case Reports, 2023
A 60-year-old woman with pseudoxanthoma elasticum (PXE) underwent thorough coronary artery disease assessments. Intravascular imaging tests suggested fragmented and calcified elastic fibers in the internal elastic lamina, suggesting a possible ...
Tomohiro Fujisaki, MD, Masanobu Ishii, MD, PhD, MPH, Bengo Atari, MD, PhD, Tomoyo Matsumura, MD, PhD, Kenichi Tsujita, MD, PhD   +4 more
doaj   +1 more source

Diabetes-induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice. [PDF]

FEBS Open Bio
Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Fülöp K, Kozák E, Tőkési N, Kocsis L, Kelemen A, Geszti Z, Kutás A, Harangi M, Diószegi Á, Rapi Z, Balla J, Le Saux O, Váradi A, Pomozi V.   +13 more
europepmc   +2 more sources

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

Orphanet Journal of Rare Diseases, 2022
Background Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration.
Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti, Pasi I. Nevalainen   +8 more
doaj   +1 more source

Cataract surgery in pseudoexfoliation syndrome [PDF]

Minia Journal of Medical Research, 2021
Pseudoexfoliation syndrome (PXE) is multifactorial disease genetically related and influenced by age and environmental factors, it is characterized by increase production of an elastic material and its accumulation in the intra and extraocular tissues ...
Hosny Zein, Raafat Abdelrahman, Mahmoud Genidy, Ramag Fahmy   +3 more
doaj   +1 more source

Managing Choroidal Neovascularization in Pseudoxanthoma Elasticum: Outcomes of Vitrectomy and Intravitreal Ranibizumab/Aflibercept Therapy-A Case Report. [PDF]

Case Rep Ophthalmol Med
Background: Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the skin, eyes, and vascular system. It commonly presents with retinal angioid streaks (ASs) and can lead to vision loss due to subretinal neovascularizations and macular atrophy.
Yamashita K, Hashizume K, Fukuda Y, Sato R, Ozawa N, Kubono H, Kawamura M, Suzuki K.   +7 more
europepmc   +2 more sources