Results 21 to 30 of about 62,873 (218)

Right Ventricular Myocardial Involvement in Anderson-Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging. [PDF]

Life (Basel), 2023
Background: Right ventricular (RV) involvement in Anderson–Fabry disease (AFD) is well known in the advanced stages of the disease RV hypertrophies, but little is known about the early involvement.
Pucci M, Iadevaia V, Gammaldi V, Iervolino A, Capece LM, Sciascia D, Cuomo V, Iacono M, Paoletta D, Santoro C, Esposito R.   +10 more
europepmc   +2 more sources

Anderson-Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3 ...
Idalina Beirão MD, PhD, Ana Cabrita MD, Márcia Torres MD, Fernando Silva MD, Patricio Aguiar MD, Ana Marta Gomes MD   +5 more
doaj   +2 more sources

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. [PDF]

Front Cardiovasc Med, 2023
Background Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease ...
Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E.   +29 more
europepmc   +2 more sources

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease. [PDF]

Int J Mol Sci, 2023
Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more than two hundred mutations in the alfa-galactosidase A (GLA) gene.
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I.   +6 more
europepmc   +2 more sources

The Identification of a Novel Pathogenic Variant of the <i>GLA</i> Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study. [PDF]

Int J Mol Sci
Anderson–Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the GLA gene, leads to the ...
Giacalone I, Ruzzi L, Anania M, Cuonzo M, Marsana EM, Mastrippolito S, Francofonte D, Bucco S, D'Errico A, Longo MO, Zizzo C, Iarlori L, Duro G, Colomba P.   +13 more
europepmc   +2 more sources

А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease [PDF]

Българска кардиология
Anderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of &nbsp;the heart, kidney and brain ...
M. Dimova, M. Gospodinova, K, Genova, E. Paskalev, V. Velchev   +4 more
doaj   +4 more sources

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]

Int J Mol Sci
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson–Fabry Disease (AFD) presentation patterns.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T.   +19 more
europepmc   +2 more sources

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

Circulation, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM, Lee, P, McKenna, WJ, Sachdev, B, Takenaka, T, Tei, C, Teraguchi, H   +6 more
core   +3 more sources

Neurological complications of Anderson-Fabry disease [PDF]

Current Pharmaceutical Design, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +4 more sources

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Anderson–Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA).
Anania M, Pieruzzi F, Giacalone I, Trezzi B, Marsana EM, Roggero L, Francofonte D, Stefanoni M, Vinci M, Zizzo C, Zora M, Di Chiara T, Duro G, Duro G, Colomba P.   +14 more
europepmc   +2 more sources