Results 111 to 120 of about 10,310 (200)

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  

Anderson–Fabry disease

Journal of Cardiovascular Medicine, 2018
Alessandro, Di Toro, Valentina, Favalli, Eloisa, Arbustini   +2 more
openaire   +3 more sources

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

Aortic remodelling in Fabry disease [PDF]

, 2017
Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied.
Barbey, Frédéric, Brakch, Noureddine, Eckhardt, Boris, Jeanrenaud, Xavier, Juli, Christoph, Linhart, Aleš, Palaček, Tomáš, Qanadli, Salah D., Rizzo, Elena   +8 more
core  

Anderson-Fabry disease: Worthy to in-SPECT the nerves? [PDF]

Journal of Nuclear Cardiology, 2021
Massalha, Samia, Slart, Riemer H. J. A.
openaire   +3 more sources

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

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

Int J Mol Sci, 2023
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I.   +6 more
europepmc   +1 more source

Do we need more intensive enzyme replacement therapy for Anderson-Fabry disease? [PDF]

, 2009
Bašić-Jukić, Nikolina, Kes, Petar, Mokos, Ivica, Ćorić, Marijana   +3 more
core   +1 more source

Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3 [PDF]

, 2012
Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
core  

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

Life (Basel), 2023
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   +1 more source