Results 21 to 30 of about 2,564 (158)

New insights into the pathogenesis of Pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers

Frontiers in Genetics, 2013
Screening of the ATP binding cassette transporter protein subfamily C member 6 gene (ABCC6) in Pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%.
Doris eHendig, Cornelius eKnabbe, Christian eGötting   +2 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

Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. [PDF]

PLoS ONE, 2016
BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So
Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer   +11 more
doaj   +1 more source

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

Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 10, Page 1676-1679, September 2026.
Tekesin I, Kerst G, Chiaie LD, Dinwiddie A, Gabriel H.   +4 more
europepmc   +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

Lansoprazole increases inorganic pyrophosphate in patients with pseudoxanthoma elasticum: a double-blind, randomized, placebo-controlled crossover trial

, 2023
Pseudoxanthoma elasticum (PXE) is characterized by low levels of inorganic pyrophosphate (PPi) and a high activity of tissue-nonspecific alkaline phosphatase (TNAP). Lansoprazole is a partial inhibitor of TNAP.
González Jiménez, Andrés, Baquero Aranda, Isabel, Merino Bohórquez, Vicente, Murcia Casas, Belén, Carrillo Linares, Juan Luis, Rico Corral, Miguel Ángel, Rioja Villodres, José, Valdivielso, Pedro   +7 more
core   +1 more source