Results 71 to 80 of about 2,063 (198)

Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson–Fabry disease [PDF]

, 2021
open21noFunding: This work was supported by the Italian Ministry of Health (PE-2013-02356818) to GCEnzyme replacement therapy (ERT) is a mainstay of treatment for Anderson–Fabry disease (AFD), a pathology with negative effects on the heart and kidneys ...
Aiello V., Biagini E., Capelli I., Cavarretta E., Condorelli G., Ditaranto R., Ferracin M., Galie N., Kunderfranco P., La Manna G., Laprovitera N., Nardi E., Pisani A., Riccio E., Roncarati R., Salamon I., Santostefano M., Spinelli L., Taglieri N., Tomasi L., Vitale G.   +20 more
core   +1 more source

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology

Orphanet Journal of Rare Diseases, 2022
Background There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from ...
K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov, A. Fisenko   +9 more
doaj   +1 more source

Molecular and clinical studies in five index cases with novel mutations in the GLA gene [PDF]

, 2015
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X ...
ALESSANDRO, Riccardo, Cammarata, G, Colomba, P, Duro, G., Fatuzzo, P, Iemolo, F, Monte, I, Pisani, A, Riccio, E, Rodolico, MS, Uva, M, Zizzo, C   +11 more
core   +1 more source

Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives [PDF]

, 2023
The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways.
Cossu, Marcello, Fanos, Vassilios, Marcialis, Maria Antonietta, Mussap, Michele, Pintus, Roberta, Serra, Fabiola, Zaffanello, Marco   +6 more
core   +2 more sources

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Oxidative stress biomarkers in Fabry disease: is there a room for them? [PDF]

, 2020
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide.
Chico L., Cianci V., Concolino D., Girelli D., Gruosso F., Mancuso M., Marchi G., Montano V., Pinto A., Salviati A., Sestito S., Siciliano G., Simoncini C., Simonetta I., Torri S., Tuttolomondo A., Vicenzi V., Zedde M.   +17 more
core   +1 more source

Inflammation and genetics in myo‐pericardial diseases: Insights from the Italian Study Group on Cardiomyopathies and Pericardial Diseases

ESC Heart Failure, Volume 12, Issue 6, Page 3987-3999, December 2025.
Proposed management of myo‐pericardial diseases. A systematic interdisciplinary approach to myo‐pericardial disease is essential to reach a correct diagnosis, starting from multiparametric characterization including EKG, echocardiography with GLS, laboratory exams and CMR or, in case of electric or haemodynamic instability, EMB.
Marco Merlo, Giulia Bassetto, Antonio Cannatà, Alberto Aimo, Camillo Autore, Barbara Bauce, Elena Biagini, Francesco Cappelli, Silvia Castelletti, Flavio D'Ascenzi, Cesare de Gregorio, Giuseppe Limongelli, Francesca Marzo, Beatrice Musumeci, Giacomo Tini, Roberto Pedrinelli, Pasquale Perrone Filardi, Gianfranco Sinagra, Massimo Imazio   +18 more
wiley   +1 more source

Gene Mutations Versus Clinically Relevant Phenotypes [PDF]

Circulation: Cardiovascular Genetics, 2014
Background— Currently, no method is available to identify α-galactosidase A (agalA) mutations determining clinically relevant Fabry disease. In our largest European Fabry cohort, we investigated whether a biomarker, specific for the defect, could stratify persons at risk. Methods and Results—
Markus, Niemann, Arndt, Rolfs, Stefan, Störk, Bart, Bijnens, Frank, Breunig, Meinrad, Beer, Georg, Ertl, Christoph, Wanner, Frank, Weidemann   +8 more
openaire   +2 more sources

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Teresa Maria Grazia Fasciana, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto   +7 more
wiley   +1 more source

Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients [PDF]

, 2019
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase-A, which results in accumulation of the glycosphingolipid (GSL) globotriaosylceramide (Gb).
Doykov, Ivan, Hallqvist, Jenny, Heywood, Wendy E, Mills, Kevin, Nowak, Albina, Spiewak, Justyna   +5 more
core   +1 more source