Results 41 to 50 of about 31,122 (181)

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source

La diagnosi precoce di malattia

Giornale di Clinica Nefrologia e Dialisi, 2019
Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide
Federica Rossi, Federico Pieruzzi
doaj   +1 more source

Cognitive impairment and Fabry Disease: a case report with mutation S126G [PDF]

Neuropsychological Trends, 2016
Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme
Razza, Grazia, Spadaro, Daniela, Giordano, Antonello, Scalia, Simone, Colomba, Paolo, Zizzo, Carmela, Duro, Giovanni, Iemolo, Francesco   +7 more
doaj   +1 more source

Cardiac Involvement in Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
Anderson-Fabry disease results from hereditary deficiency of the lysosomal enzyme -galactosidase A. This disease is marked by progressive intracellular accumulation of globotriaosylceramide (Gb3) and digalactosylceramide, the major glycosphingolipid substrates of -galactosidase A.
Christoph, Kampmann, Frank, Baehner, Markus, Ries, Michael, Beck   +3 more
openaire   +2 more sources

Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

Cardiogenetics, 2020
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello, Federica Verrillo, Riccardo Ricciolino, Dario Prozzo, Andrea Tuccillo, Martina Caiazza, Marta Rubino   +6 more
doaj   +1 more source

Cardiac MRI Across ESC Guidance in the Last Decade

Clinical Cardiology, Volume 49, Issue 5, May 2026.
CMR: bridging clinical challenges to guideline solutions. Four panels summarise the role of cardiovascular magnetic resonance (CMR) in ESC guidance. Abbreviations: CMR = cardiovascular magnetic resonance. ESC = European Society of Cardiology. MINOCA = myocardial infarction with non‐obstructive coronary arteries. RV = right ventricle.
Alexander Gall, Nicholas Sawh, Rui Li, Peter P. Swoboda, Andrew J. Swift, Gareth Matthews, Pankaj Garg   +6 more
wiley   +1 more source

Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art

Diagnostics, 2023
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several ...
Andrea Ponsiglione, Marco De Giorgi, Raffaele Ascione, Carmela Nappi, Luca Sanduzzi, Antonio Pisani, Serena Dell’Aversana, Alberto Cuocolo, Massimo Imbriaco   +8 more
doaj   +1 more source

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A, Hermann Mascher (440562), Hermann Mascher, Anne-Katrin Giese, Ed Kolodny, Ulrike Grittner, Anne-Katrin Giese (440558), Arndt Rolfs (140849), Arseni Markoff (440559), Mascher, H, Arseni Markoff, Markoff, A, Karl J. Lackner (133732), Viatcheslav Saviouk (364866), Viatcheslav Saviouk, Saviouk, V, Phillip Wree, Arndt Rolfs, Grittner, U, Jan Lukas, Kolodny, E, Ed Kolodny (440561), Phillip Wree (440564), Wree, P, Jan Lukas (338014), Ulrike Grittner (440560), Karl J Lackner, Lukas, J, Wolfgang Meyer, Meyer, W, Wolfgang Meyer (440563), Giese, A-K, Lackner, KJ   +32 more
core   +1 more source

Speckle Tracking Echocardiography for Global Longitudinal Strain—Have Modern Strain Packages Improved Reproducibility?

Sonography, Volume 13, Issue 1, March 2026.
ABSTRACT Introduction Speckle tracking strain imaging has become a routine part of echocardiography. However, despite the efforts of multiple associations and industry, there has been variation in results between vendors. We aimed to determine if modern strain analysis yielded results with improved reproducibility.
Rebecca Perry, Emilie Rasheed, Kaylene Gluyas, Majo Joseph   +3 more
wiley   +1 more source

Anderson-Fabry disease in heart failure [PDF]

Biophysical Reviews, 2018
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms ...
M. M. Akhtar, P. M. Elliott
openaire   +3 more sources