Results 101 to 110 of about 35,392 (213)

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]

, 2017
Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric, Bekri, Soumeya, Brakch, Noureddine, Correvon, Magali, Dormond, Olivier, Golshayan, Dela, Mazzolai, Lucia, Steinmann, Beat   +7 more
core  

The Kidney in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj   +1 more source

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be ...
Hiroshi Kobayashi, Norio Nakata, Sayoko Izuka, Kenichi Hongo, Masako Nishikawa   +4 more
doaj   +1 more source

Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2012
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Carvalho, F, Galvão, MJ, Natário, A, Viana, H   +3 more
core  

Origin of slow stress relaxation in the cytoskeleton

, 2019
Dynamically crosslinked semiflexible biopolymers such as the actin cytoskeleton govern the mechanical behavior of living cells. Semiflexible biopolymers nonlinearly stiffen in response to mechanical loads, whereas the crosslinker dynamics allow for ...
Koenderink, Gijsje H., MacKintosh, F. C., Mulla, Yuval   +2 more
core   +2 more sources

Bilateral avascular necrosis: A rare complication of Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +1 more source

Aortic remodelling in Fabry disease [PDF]

, 2017
Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied.
Barbey, Frédéric, Brakch, Noureddine, Eckhardt, Boris, Jeanrenaud, Xavier, Juli, Christoph, Linhart, Aleš, Palaček, Tomáš, Qanadli, Salah D., Rizzo, Elena   +8 more
core  

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation [PDF]

, 2017
Background. The purpose of this study was to identify determinants of renal disease progression in adults with Fabry disease during treatment with agalsidase beta. Methods.
Beitner-Johnson, Dana, Cole, J.Alexander, Germain, Dominique P., Lemay, Roberta, Linthorst, Gabor E., Maródi, László, Mauer, Michael, Mignani, Renzo, Oliveira, João P., Ortiz, Alberto, Serra, Andreas L., Svarstad, Einar, Vujkovac, Bojan, Waldek, Stephen, Wanner, Christoph, Warnock, David G.   +15 more
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Champagne Seas—Foretelling the Ocean’s Future? [PDF]

, 2009
Imagine you are an ocean researcher and you want to study the ecological impacts of ocean acidification. You know from studies carried out under controlled laboratory conditions that lowered pH can impact the physiology, growth, and development of ...
Hall-Spencer, J, Rauer, E
core   +1 more source