Results 71 to 80 of about 1,670 (156)

Role of cardiac imaging in Anderson-Fabry cardiomyopathy

Cardiovascular Ultrasound, 2019
The Anderson-Fabry disease (AFD, or simply Fabry Disease, FD; MIM #301500) is a rare X-linked lysosomal storage disorder (Xq22.1) characterized by progressive renal failure, leading to morbidity through cardio- and cerebro-vascular involvement.
Walter Serra, Nicola Marziliano
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley   +1 more source

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

Journal of the Belgian Society of Radiology, 2016
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement.
Shusuke Kasuya, Masayo Suzuki, Tsutomu Inaoka, Masayuki Odashima, Tomoya Nakatsuka, Rumiko Ishikawa, Wataru Tokuyama, Hitoshi Terada   +7 more
doaj   +1 more source

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

Diseases, 2017
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation.
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes   +6 more
doaj   +1 more source

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

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

Anderson-Fabry disease. [PDF]

BMJ, 1988
S H, Morgan, M A, Crawfurd
openaire   +2 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