Results 91 to 100 of about 31,072 (153)

Abstracts of the 18th SCWD Conference, 11‐13 December 2025 in Rome/Italy

JCSM Communications, Volume 9, Issue 1, January/June 2026.
wiley   +1 more source

Gene Editing in Fabry Disease: A Strategy Delineation

, 2022
Oral presentation by first authorThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases.
Moreira, Luciana, Amaral, Olga, Duarte, Ana J., Ribeiro, Diogo   +3 more
core  

The heart in Anderson Fabry disease

, 2002
Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme á{alpha}-galactosidase A. The deficiency of {alpha}-galactosidase A leads to a progressive accumulation of globotriaosylceramide (Gb(3)), the major ...
Kampmann, C., Osterziel, K.J., Wiethoff, C.M., Dietz, R., Perrot, A., Beck, M.   +5 more
core   +1 more source

Cardiovascular comorbidities in Anderson-Fabry disease: prevalence and clinical significance

reservedBackground: Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations leading to α-galactosidase A deficiency.
GATTARI, BIANCA MARIA
core  

Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy

, 2008
AIMS: Anderson-Fabry disease affects various organ systems due to glycosphingolipid accumulation. Enzyme replacement therapy (ERT) has been reported to decrease left ventricular wall thickening (LVWT) and to improve diastolic dysfunction.
C. H. Attenhofer Jost, Jenni, R., Zuber, M, Seifert, B., Schulthess, G., Zuber, M., Attenhofer Jost, C H, Schulthess, G, Widmer, U, Seifert, Burkhardt, Attenhofer Jost, C. H., M. Zuber, G. Schulthess, Widmer, U., U. Widmer, Jenni, R, Kovacevic-Preradovic, T., B. Seifert, A. Fischer, Fischer, A., R. Jenni, Fischer, A, T. Kovacevic-preradovic, Kovacevic-Preradovic, T   +23 more
core   +1 more source

Prominent longitudinal strain reduction of left ventricular basal segments in treatment-naïve Anderson-Fabry disease patients

, 2019
Little is known about regional longitudinal strain (LS) distribution in early stages of Anderson-Fabry disease (AFD) cardiomyopathy. We investigated regional left ventricular (LV) patterns of LS strain and base-to-apex behaviour of LS in treatment-naïve
Galderisi, Maurizio, Riccio, Eleonora, Lembo, Maria, Angela Losi, Maria, Maria Pellegrino, Angela, Sorrentino, Regina, Trimarco, Bruno, Citro, Rodolfo, Pisani, Antonio, Imbriaco, Massimo, Spinelli, Letizia, Santoro, Ciro, Esposito, Roberta   +12 more
core   +1 more source

Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research

Cellular & Molecular Biology Letters
Human Gb3/CD77 synthase (α1,4-galactosyltransferase, P1/Pk synthase, UDP-galactose: β-d-galactosyl-β1-R 4-α-d-galactosyltransferase, EC 2.4.1.228) forms Galα1 → 4Gal structures on glycosphingolipids and glycoproteins.
Katarzyna Szymczak-Kulus, Marcin Czerwinski, Radoslaw Kaczmarek   +2 more
doaj   +1 more source

Corneal confocal microscopy detects neuropathy in patients with Fabry disease

, 2008
Purpose: Neuropathy is a cause of significant disability in\ud patients with Fabry disease, yet its diagnosis is difficult. We have compared the novel non-invasive techniques of corneal confocal microscopy (CCM) and non-contact corneal aesthesiometry ...
Marshall, Andrew G., Efron, Nathan, Tavakoli, Mitra, Malik, Rayaz A., Waldek, Stephen   +4 more
core   +1 more source

Renal ultrastructural findings in Anderson-Fabry disease

, 2002
Anderson-Fabry disease (AFd) is caused by an X-linked inborn error in the glycosphingoLipid metabolic pathway due to an enzymatic defect in a lysosomal hydrolase: alpha-galactosidase A.
F. Giordano, A. Tosoni, M. Meroni, P. Gatti, G. Calconi, F. Pallotti, G. Battini, G. Bertolone, A. Maglio, A. Sessa, M. Nebuloni   +10 more
core  

Multidisciplinary approach in the differential diagnosis of left ventricular hypertrophy: a case report

Кардиоваскулярная терапия и профилактика
Left ventricular (LV) hypertrophy implies structural cardiac changes and, as a consequence, an increase in myocardial mass. Currently, there are many causes of this condition as follows: hypertension, aortic stenosis, hypertrophic cardiomyopathy ...
M. M. Kudryavtseva, E. V. Ryzhkova, O. V. Kulikova, E. A. Mershina, V. E. Sinitsyn, O. M. Drapkina, R. P. Myasnikov   +6 more
doaj   +1 more source