Results 71 to 80 of about 1,106 (130)

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Cardiogenetics
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency.
Gabriela Dostalova, Jaroslav Januska, Michaela Veselá, Petra Reková, Anna Taborska, Martin Pleva, David Zemanek, Aleš Linhart   +7 more
doaj   +1 more source

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Global Health, Epidemiology and Genomics
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins with ...
Sebastián Jaurretche, Santiago Alonso, Mónica Calvo, Sebastián Fernandez, Heber Figueredo, Beatriz Galli, Ivanna Marin, Andrés Martinez, Silvia Mattausch, Fernando Perretta, Juan Politei, Juan Ignacio Rolon, Esteban Calabrese   +12 more
doaj   +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley   +1 more source

Two-by-two panel of total plasma α-Gal A activity AUC stick plots for agalsidase alone and co-administered with migalastat HCl.

, 2015
Upper left and right plots show individual patient changes between agalsidase beta alone and when co-administered with 150 mg migalastat HCl (upper left) or 450 mg migalastat (upper right) for plasma α-Gal activity AUC0-∞. Lower left and right plots show
Mark Thomas (83380), Carrolee Barlow (55079), Myrl Holida (781292), David J. Lockhart (150528), Franklin K. Johnson (781296), Kenneth J. Valenzano (150531), Brandon A. Wustman (600825), Pol Boudes (398543), Richie Khanna (150496), John J. Flanagan (150499), David G. Warnock (166505), Daniel G. Bichet (781291), Francois Eyskens (5664652), Sheela Sitaraman (781295), Ozlem Goker-Alpan (18201), Mathews Adera (781294), Kathy Nicholls (398542), Jay Barth (495717), Suma Shankar (781293)   +18 more
core   +1 more source

Development of iminosugar-based glycosidase inhibitors as drug candidates for SARS-CoV-2 virus via molecular modelling and in vitro studies

Journal of Enzyme Inhibition and Medicinal Chemistry
We developed new iminosugar-based glycosidase inhibitors against SARS-CoV-2. Known drugs (miglustat, migalastat, miglitol, and swainsonine) were chosen as lead compounds to develop three classes of glycosidase inhibitors (α-glucosidase, α-galactosidase ...
Zorana Ferjancic, Filip Bihelovic, Bojan Vulovic, Radomir Matovic, Milena Trmcic, Aleksandar Jankovic, Milos Pavlovic, Filip Djurkovic, Radivoje Prodanovic, Aleksandra Djurdjevic Djelmas, Nevena Kalicanin, Mario Zlatovic, Dusan Sladic, Thomas Vallet, Marco Vignuzzi, Radomir N. Saicic   +15 more
doaj   +1 more source

How do Physical Activity and Exercise affect Fabry Disease? Exploring a New Opportunity

Kidney & Blood Pressure Research
Background: Fabry disease (FD) is a multisystem, monogenic, X-linked storage disorder caused by mutations in the GLA gene, resulting in reduced alfa-galactosidase A enzyme activity.
Federica Baciga, Giacomo Marchi, Federica Caccia, Claudia Momentè, Pasquale Esposito, Filippo Aucella, Nicola Vitturi, Laura Pederzoli, Meilad Shakkour, Antonio Granata, Maria Teresa Zicarelli, Domenico Girelli, Michele Andreucci, Gianni Carraro, Yuri Battaglia   +14 more
doaj   +1 more source

When should we think about Fabry disease?

Journal of Education, Health and Sport
According to the European Union definition, a rare disease is a disease that occurs with a frequency of less than 5 per 10,000. Rare diseases pose a major diagnostic problem for physicians.
Natalia Chojnacka, Radosław Cymer, Karolina Jurasz, Dominika Podgórska, Ewa Rzeska, Miłosz Sanecki, Karolina Tomczyk, Jakub Klarycki   +7 more
doaj   +1 more source

How to escape from sudden death: a challenging case of a rare cardiomyopathy with an unexpected twist

Monaldi Archives for Chest Disease
A 59-year-old man presented with recurrent syncope and was found to have bifascicular block and severe concentric left ventricular hypertrophy. A permanent double-chamber pacemaker was implanted.
Luísa Pinheiro, Margarida de Castro, Filipa Cordeiro, Tamara Pereira, Francisco Ferreira, Víctor Sanfins, António Lourenço, Olga Azevedo   +7 more
doaj   +1 more source

Fabry Disease - literature review

Journal of Education, Health and Sport
Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common. It results from deficient alpha-galactosidase activity, leading to the accumulation
Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Adrian Muzyka, Julia Rydzek, Ewa Gardocka   +6 more
doaj   +1 more source

Medication adherence in Fabry patients treated with migalastat: Real world experience

Molecular Genetics and Metabolism Reports, 2023
Eleonora Riccio, Oriana de Marco, Antonio Pisani   +2 more
doaj   +1 more source