Results 31 to 40 of about 2,584 (187)

Novel Treatments for PXE: Targeting the Systemic and Local Drivers of Ectopic Calcification [PDF]

, 2023
Pseudoxanthoma elasticum (PXE) is a heritable multisystem ectopic calcification disorder. The gene responsible for PXE, ABCC6, encodes ABCC6, a hepatic efflux transporter regulating extracellular inorganic pyrophosphate (PPi), a potent endogenous ...
Jacobs, Ida Joely, Li, Qiaoli
core   +3 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

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 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

Comet Lesions in Patients with Pseudoxanthoma Elasticum

Türk Oftalmoloji Dergisi, 2015
Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch’s membrane involvement.
Sinan Tatlıpınar, Berna Şahan, Muhsin Altunsoy   +2 more
doaj   +1 more source

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

Phenodex scores of patients diagnosed with PXE.

, 2022
Phenodex scores of patients diagnosed with PXE.
Amir Hossein Saeidian (12525125), Douglas Ralph (12476313), Sharon F. Terry (12476334), Jouni Uitto (307381), Qiaoli Li (277667), Matthew Caffet (12476319), Tamara Wurst (12476322), Michael A. Levine (11734109), Yvonne Nitschke (12476316), Frank Rutsch (11533), Leila Youssefian (12476328), Hassan Vahidnezhad (12476331)   +11 more
core   +1 more source

Разработка PXE сервера с удаленным доступом

, 2021
В данной работе описаны результаты создания сервера PXE с удаленным доступом для технического отдела компании ООО НАГ. Разработанный сервер создавался для загрузки рабочей станции через PXE были организованны взаимодействия служб DHCP, HTTP и TFTPD c ...
Сливканич, Д. Д.
core   +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