Results 71 to 80 of about 6,638 (157)

Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 805-817, July 2024.
Abstract Fabry disease (FD) is an X‐linked multiorgan disorder caused by variants in the alpha‐galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from benign to life‐threatening. More than 1000 GLA variants are known, but a link between genotype and phenotype in FD has not yet been established for all.
Alexandra Klein, Katharina Klug, Maximilian Breyer, Julia Grüner, Vijay Krishna Medala, Peter Nordbeck, Christoph Wanner, Eva Klopocki, Nurcan Üçeyler   +8 more
wiley   +1 more source

Globotriaosylsphingosine actions on human glomerular podocytes: Implications for Fabry nephropathy

, 2011
Background. Transforming growth factor-β1 (TGF-β1) and the macrophage inhibitory factor receptor CD74 link the metabolic disorder with tissue injury in diabetic nephropathy.
Egido, J, Sanz, AB, Saleem, MA, Sanchez-Niño, MD, Mathieson, PW, Valdivielso, JM, Ruiz-Ortega, M, Carrasco, S, Ortiz, A   +8 more
core   +1 more source

Aseptic meningitis and Fabry disease

Annals of Clinical and Translational Neurology, Volume 11, Issue 6, Page 1430-1441, June 2024.
Abstract Objective Fabry disease is caused by enzymatic defects in alpha‐galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a multisystemic disorder. The most common neurological manifestations are neuropathic pain, autonomic nervous system dysfunction and strokes, but some rarer neurological ...
Camille Montardi, Augustin Gaudemer, Mathieu Zuber, Francis Vuillemet, Jean‐François Alexandra, Olivier Lidove, Wladimir Mauhin   +6 more
wiley   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source

RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death

, 2021
Fabry disease is a lysosomal storage disease with an X-linked heritage caused by absent or decreased activity of lysosomal enzymes named alpha-galactosidase A (α-gal A).
Eun Soo Lee, Jeong Suk Kang, Jong-Seok Moon, Samel Park, Seong-Woo Lee, So-Young Kim, Eun Young Lee, Ji-Hye Lee, Miri Kim, Youngjo Kim, Choon Hee Chung   +10 more
core   +1 more source

Fabry‐specific treatment in Australia: time to align eligibility criteria with international best practices

Internal Medicine Journal, Volume 54, Issue 6, Page 882-890, June 2024.
Abstract Background Disease‐specific therapy aims to improve symptoms, stabilise current disease and delay progression in patients with Fabry disease. In Australia, treatment access is subject to eligibility criteria initially established in 2004. Patients and their clinicians question why these criteria have remained unchanged despite significant ...
Kathleen Nicholls, Charles Denaro, Michel Tchan, Carolyn Ellaway, Drago Bratkovic, Sheridan Campbell, Megan Fookes, Mark Thomas   +7 more
wiley   +1 more source

Commentary on ‘Lentivirus‐mediated gene therapy for Fabry disease: 5‐year end‐of‐study results from the Canadian FACTS trial’

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

A Systematic Literature Review on the Use of Dried Biofluid Microsampling in Patients With Kidney Disease

Journal of Clinical Laboratory Analysis, Volume 38, Issue 7, April 2024.
We carried out a systematic review of the use of dried biofluids in kidney disease. The majority of studies focused on drug quantification following transplant. However, dried biofluids were comparable with venous samples opening up the possibility to expand to biomarker discovery.
Megan K. Lamond, Andrew J. Chetwynd, Alan D. Salama, Louise Oni   +3 more
wiley   +1 more source

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐
Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza   +4 more
doaj   +1 more source

Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy

Cells
Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects.
Margarita M. Ivanova, Julia Dao, Andrew Friedman, Neil Kasaci, Ozlem Goker-Alpan   +4 more
doaj   +1 more source