Results 91 to 100 of about 2,564 (158)

UEG Week 2025 Moderated Posters

United European Gastroenterology Journal, Volume 13, Issue S8, Page S189-S802, October 2025.
wiley   +1 more source

Pseudoxanthoma elasticum (PXE): 15 casi clinici e follow up cardiologico [PDF]

, 2011
Pseudoxanthoma elasticum (PXE; synonym: Gronblad-Strandberg syndrome) is a rare, inherited, multisystem disorder primarily affecting the skin, eyes, and cardiovascular system.
Calvieri, Stefano, Divona, Luigina, Miraglia, Emanuele, Giustini , Sandra, Carbone, Antonio, Bruni, C., Strano, Stefano   +6 more
core   +1 more source

Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum

Journal of Ophthalmology
Pseudoxanthoma elasticum (PXE) is a rare metabolic disease with autosomal recessive inheritance. The manifestation in PXE is represented by retinal complications, pseudoxanthomas of the skin folding areas, and arterial calcification.
Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman   +8 more
doaj   +1 more source

Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI [PDF]

, 2015
The mineralisation disorder pseudoxanthoma elasticum (PXE) is associated with mutations in the transporter protein ABCC6. Patients with PXE suffer from calcified lesions in the skin, eyes and vasculature, and PXE is related to a more severe vascular ...
Schulte-Merker, Stefan, Mackay, Eirinn William, Apschner, Alexander, Hubrecht Institute with UMC, Cancer   +4 more
core  

Microdetermination of chondroitin sulfate in normal and PXE-affected human plasma by HPLC and fluorophore-assisted carbohydrate electrophoresis (FACE)

, 2005
Microdetermination of chondroitin sulfate in normal and PXE-affected human plasma by HPLC and fluorophore-assisted carbohydrate electrophoresis ...
VOLPI, Nicola, MACCARI, Francesca
core  

Pseudoxanthoma elasticum (PXE): ultrastructural and biochemical study on proteoglycan and proteoglycan-associated material produced by skin fibroblasts in vitro.

, 1988
Pseudoxanthoma elasticum is a genetic disease characterized by progressive mineralization of elastic fibers. Previous studies suggested that other components, apart from elastin, might be involved in the alterations of this connective tissue disorder ...
SALVINI, ROBERTA, RINDI, SIMONETTA, BACCARANI CONTRI M., CINGI M. R., TIOZZO COSTA R., DE LUCA G., PASQUALI RONCHETTI I.   +6 more
core  

Clinical characteristics of angioid streaks in Japanese patients. [PDF]

Jpn J Ophthalmol
Maruko R, Maruko I, Hashiya N, Hasegawa T.   +3 more
europepmc   +1 more source

Peripheral artery disease in pseudoxanthoma elasticum: Walking capacity on the 6-minute walking test. [PDF]

Vasc Med
Haverkamp M, Visseren FL, Hazenberg CE, de Jong PA, Spiering W.   +4 more
europepmc   +1 more source

Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology. [PDF]

Int J Mol Sci
Heiduschka P, Nitschke Y, Clemens C, Storp J, Eter N, Rutsch F.   +5 more
europepmc   +1 more source

On the pathogenesis of PXE-like clinical manifestations in Beta-thalassemic patients

, 2005
Altered fibroblast phenotype and membrane transport properties are described in patients affected by beta-thalassemia with elastic fiber mineralization and PXE-like clinical ...
G. L. Forni, TIOZZO, Roberta, PAOLINELLI DEVINCENZI, Chiara, RONCHETTI, Ivonne, P. Cianciulli, QUAGLINO, Daniela, CROCE, Maria Antonietta, M. I. Garcia Fernandez, F. Sorrentino, BORALDI, Federica   +9 more
core