Results 121 to 130 of about 57,841 (208)

Doença de Fabry - importância do rastreamento em córnea verticilata: relato de caso [PDF]

, 2011
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In
Arantes, Tiago Eugênio Faria e, Muccioli, Cristina, Yonamine, Fabio Yamasato   +2 more
core   +2 more sources

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

PLoS ONE, 2017
Background Anderson-Fabry disease (AFD) is an X-linked recessive inborn error of glycosphingolipid metabolism caused by a deficiency of alpha-galactosidase A. Renal failure, heart and cerebrovascular involvement reduce survival.
R. El Dib, Huda Gomaa, A. Ortiz, J. Politei, A. Kapoor, F. Barreto   +5 more
semanticscholar   +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

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +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

Kidneys in Anderson-Fabry disease

Acta clinica Croatica, 2005
Anderson-Fabry disease is an X-linked recessive glycolipid storage disease caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Numerous mutations are responsible for development of the disease. Clinical manifestations include acroparesthesia from childhood, corneal dystrophy, angiokeratomas, hypohidrosis, hearing loss and, with ...
Kes, Petar, Bašić-Jukić, Nikolina
openaire   +1 more source

Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease

Journal of Cardiovascular Magnetic Resonance, 2016
BackgroundAlthough it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this.
D. Deva, Kate Hanneman, Qin Li, M. Ng, S. Wasim, C. Morel, R. Iwanochko, P. Thavendiranathan, A. Crean   +8 more
semanticscholar   +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

Anderson-Fabry disease. [PDF]

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

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