Results 21 to 30 of about 10,281 (167)

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source

Anderson-Fabry disease: a multiorgan disease. [PDF]

, 2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +1 more source

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Revista Portuguesa de Cardiologia, 2014
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause ...
Francisca Caetano, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marques   +4 more
doaj   +1 more source

Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]

, 2014
Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E, Feriozzi S, Giannakakis K, Gomes VV, MASSARI, ANNALISA, Ranalli TV   +5 more
core   +1 more source

Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Revista Médica del Hospital General de México, 2018
Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the ...
A.L. Mena Rodríguez, M.V. Soto Abraham, M.Y. Valdespino Vázquez, B. de León Garza   +3 more
doaj   +1 more source

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up

Revista Portuguesa de Cardiologia, 2014
Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically
Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira   +4 more
doaj   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Elliott, PM, Lee, P, McKenna, WJ, Sachdev, B, Takenaka, T, Tei, C, Teraguchi, H   +6 more
core   +1 more source

Anderson-Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3 ...
Idalina Beirão MD, PhD, Ana Cabrita MD, Márcia Torres MD, Fernando Silva MD, Patricio Aguiar MD, Ana Marta Gomes MD   +5 more
doaj   +1 more source