Results 11 to 20 of about 62,873 (218)

Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. [PDF]

Int J Mol Sci, 2021
Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A ...
Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A.   +6 more
europepmc   +4 more sources

Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies. [PDF]

Diagnostics (Basel)
Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity.
Tognola C, Ruzzenenti G, Maloberti A, Varrenti M, Mazzone P, Giannattasio C, Guarracini F.   +6 more
europepmc   +2 more sources

Anderson-Fabry disease: a multiorgan disease. [PDF]

Current Pharmaceutical Design, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +6 more sources

Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. [PDF]

Eur Radiol, 2023
Objectives Cardiac involvement in Anderson-Fabry disease (AFD) results in myocardial lipid depositions. An early diagnosis can maximize therapeutic benefit.
Halfmann MC, Altmann S, Schoepf UJ, Reichardt C, Hennermann JB, Kreitner KF, Kloeckner R, Hahn F, Dueber C, Varga-Szemes A, Kampmann C, Emrich T.   +11 more
europepmc   +2 more sources

Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography [PDF]

Cardiovascular Ultrasound, 2005
Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional ...
Undas Anetta, Krzanowski Marek, Dimitrow Paweł   +2 more
doaj   +4 more sources

Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives. [PDF]

J Clin Med
Anderson–Fabry disease (AFD) remains a therapeutic challenge despite advances in early diagnosis and the availability of enzyme replacement therapies (ERTs).
Carella MC, Forleo C, Caretto P, Naccarati ML, Dentamaro I, Dicorato MM, Basile P, Carulli E, Latorre MD, Baggiano A, Pontone G, Ciccone MM, Guaricci AI.   +12 more
europepmc   +2 more sources

Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis. [PDF]

J Cardiovasc Magn Reson, 2022
Background T1 mapping is an established cardiovascular magnetic resonance (CMR) technique that can characterize myocardial tissue. We aimed to determine the weighted mean native T1 values of Anderson-Fabry disease (AFD) patients and the standardized mean
Ponsiglione A, Gambardella M, Green R, Cantoni V, Nappi C, Ascione R, De Giorgi M, Cuocolo R, Pisani A, Petretta M, Cuocolo A, Imbriaco M.   +11 more
europepmc   +2 more sources

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Amyloid and Anderson-Fabry disease: Can there be a CMR phenotypic overlap? [PDF]

J Cardiol Cases
A 53-year-old female had an atypical presentation of cardiac amyloidosis on cardiac magnetic resonance imaging. As opposed to the usual diffuse heterogenous late gadolinium enhancement (LGE) seen in cases of cardiac amyloidosis, the patient had localized
Alnaimat S, Mascara M, Maharjan S, Naser A, Ivanova V, Shah M, Biederman RWW.   +6 more
europepmc   +2 more sources

Potential Pathogenetic Role of the D313Y Mutation in the <i>GLA</i> Gene in Anderson Fabry Disease: Two Case Reports. [PDF]

Int J Mol Sci
Anderson Fabry disease (AFD) is an X-linked hereditary lysosomal abnormality that causes the accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and a shortened life span. More than 1000 mutations in the GLA
La Russa A, Siniscalchi A, Bonaventura A, Di Noia D, Valsania T, Stallone G, Tartaglia L, Chiapparino C, Di Rienzo G, Coppolino G, Bolignano D, Faga T, Michael A, Montesanto A, Serra R, Andreucci M.   +15 more
europepmc   +2 more sources