Results 101 to 110 of about 10,281 (167)

Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]

, 2014
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan, Muačević-Katanec, Diana, Pećin, Ivan, Reiner, Željko, Šimić, Iveta, Šućur, Nediljko   +5 more
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Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2012
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Carvalho, F, Galvão, MJ, Natário, A, Viana, H   +3 more
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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.
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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
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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

Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [PDF]

, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all ...
Bibby, Bo M., Birn, Henrik, Christensen, Erik I., Feldt-Rasmussen, Ulla, Nielsen, Rikke, Prabakaran, Thaneas, Regeniter, Axel, Sørensen, Søren S.   +7 more
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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