Results 91 to 100 of about 4,991,114 (167)

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

, 2019
João Paulo Oliveira,1,2,3 Susana Ferreira1,3 1Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernâni Monteiro, 4200-319 Porto, Portugal; 2Service of Medical Genetics, São João University Hospital ...
Ferreira S, Oliveira JP
core  

Fabry disease cardiomyopathy: A practical guide for cardiologists

Fabry disease (FD) is an X-linked lysosomal storage disease that results in the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3) in a variety of cells.
Al Saleh, Tala, Vardarli, Irfan, Qadeer, Yusuf, Hachem, Karim El, Giugliani, Roberto, Pieroni, Maurizio, Poswar, Fabiano de Oliveira, Wallace, Eric, Yue, Bing, Krittanawong, Chayakrit   +9 more
core   +1 more source

Arrhythmogenesis in Fabry Disease [PDF]

Purpose of Review: Fabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to deficiency in the enzyme α-galactosidase A.
O'Shea, Christopher, Kalla, Manish, Geberhiwot, Tarekegn, Cumberland, Max, Steeds, Richard, Holmes, Andrew; id_orcid, Gehmlich, Katja; id_orcid, Holmes, Andrew, Steeds, Richard P, Roy, Ashwin, Gehmlich, Katja, Cumberland, Max J   +11 more
core   +1 more source

Corneal confocal microscopy detects neuropathy in patients with Fabry disease

, 2008
Purpose: Neuropathy is a cause of significant disability in\ud patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry ...
Marshall, Andrew G., Efron, Nathan, Tavakoli, Mitra, Malik, Rayaz A., Waldek, Stephen   +4 more
core   +1 more source

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy

Cells
Fabry disease (FD) is an X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, resulting in α-galactosidase A deficiency and accumulation of Gb3/lyso-Gb3 (globotriaosylceramide/globotriaosylsphingosine) in cells, including podocytes ...
Margarita M. Ivanova, Julia Dao, Leah Svarny, Emily Nguyen, Sahithi Ponnam, Ozlem Goker-Alpan   +5 more
doaj   +1 more source

Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy

JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley   +1 more source

Nutritional status, physical fitness and resting energy expenditure in adult patients affected by Fabry Disease

reservedINTRODUZIONE: La Malattia di Fabry (FD) è una patologia metabolica ereditaria rara, legata al cromosoma X, appartenente al gruppo delle malattie da accumulo lisosomiale, caratterizzata da un coinvolgimento multisistemico.
TOSETTO, FRANCESCA
core  

The use of globotriaosylsphingosine to detect and monitor Fabry Disease [PDF]

, 2016
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the α-galactosidase-A (α-gal-A) enzyme. The lack of enzymatic activity results in the accumulation of glycosphingolipids (GSLs) in the lysosomes of various tissues and
Alharbi, Fahad Jazza
core   +1 more source