Results 81 to 90 of about 10,281 (167)

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [PDF]

, 2012
Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids
Albeggiani, G, ALESSANDRO, Riccardo, COLOMBA, Paolo, Duro, G., Iemolo, F, Imbraco, M, Pisani, A, Zizzo, Carmela   +7 more
core   +2 more sources

Reshuffling of Azorean Coastal Marine Biodiversity Amid Climate Change

Journal of Biogeography, Volume 51, Issue 12, Page 2546-2555, December 2024.
ABSTRACT Aim Climate change poses a challenge to the Azores' biodiversity, with consequences that remain unexplored. To shed light on the potential impacts of climate change, we have developed a large ensemble of species distribution models (SDMs) for species found in the coastal marine environments and examined their spatiotemporal turnover and ...
Juan David González‐Trujillo, Babak Naimi, Jorge Assis, Miguel B. Araújo   +3 more
wiley   +1 more source

Integrative Systems Biology Investigation of Fabry Disease

Diseases, 2016
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3).
Marco Fernandes, Holger Husi
doaj   +1 more source

Fabry in the older patient: Clinical consequences and possibilities for treatment. [PDF]

, 2016
Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life ...
Barbey, F, Bizjajeva, S, Brand, E, Hughes, DA, Lidove, O, Nicholls, K, Niu, DM   +6 more
core   +2 more sources

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Frontiers in Cardiovascular Medicine
Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme.
Oriana De Marco, Jessica Gambardella, Jessica Gambardella, Antonio Bianco, Antonella Fiordelisi, Federica Andrea Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Ivana Capuano, Maria Amicone, Teodolinda Di Risi, Teodolinda Di Risi, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Antonio Pisani, Guido Iaccarino, Guido Iaccarino, Daniela Sorriento, Daniela Sorriento   +19 more
doaj   +1 more source

Relationship between MRI Derived Right Ventricular Mass and Left Ventricular Involvement in Patients with Anderson-Fabry Disease [PDF]

, 2015
Poster ...
Calleja, A, Crean, A, Deva, DP, Gruner, C, Iwanochko, RM, Li, Q, Ng, MY, Thavendiranathan, P   +7 more
core   +2 more sources

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

Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease [PDF]

, 2017
Background: Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood ...
Beck, Michael, de Lorenzo, Abelardo García, Dehout, François, Gal, Andreas, Houge, Gunnar, Kampmann, Christoph, Kleinert, Julia, Linhart, Ales, Mehta, Atul, Ramaswami, Uma, Ricci, Roberta, Schwarting, Andreas, Sunder-Plassmann, Gere, Widmer, Urs   +13 more
core  

Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]

, 2017
El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +2 more sources

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