Results 131 to 140 of about 57,841 (208)

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

Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy [PDF]

, 2018
Progressive hearing (pHL) and vestibular (pVL) loss are frequent deficits in Fabry disease (FD). Recently, enzyme replacement therapy (ERT) with human α-galactosidase A has become available.
Hegemann, S., Palla, A., Straumann, D., Widmer, U.   +3 more
core  

Anderson–Fabry disease

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

Pituitary function and morphology in Fabry disease.

, 2015
Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate.
Belfiore, Maria Paola, Colao, Annamaria, Daniele, Aurora, Faggiano, Antongiulio, Maione, Luigi, Modica, Roberta, Pisani, Antonio, Ramundo, Valeria, Riccio, Eleonora, Tortora, Fabio   +9 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
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

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

Frequency of Fabry disease in male and female haemodialysis patients in Spain [PDF]

, 2011
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme a-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females.
Alegria, P.R. (Pilar), Andrade, C.F. (Carlos), Cerezo, Sebastián, Delgado, Rodrigo, Forascepi, Ramón, Herrera, Julio, Macias, Juan, Paulo, Gaspar, Pino, M.D. (María), Prados, M.D. (María), Rodrigues, Daniel, Sá-Miranda, M.C. (Maria), Torres, Gerardo, Vidau, Pedro   +13 more
core  

Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation. [PDF]

CASE (Phila), 2023
Zhou GW, Yang F, Qiao F, Song ZG, Han L, Lu FL, Xu ZY.   +6 more
europepmc   +1 more source