Results 21 to 30 of about 1,676 (150)
Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future [PDF]
Journal of Clinical Medicine, 2021 Ciro Santoro +2 more
exaly +2 more sources
Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies [PDF]
International Journal of Molecular Sciences, 2021 Antonino Tuttolomondo +2 more
exaly +2 more sources
Nefrología, 2023 Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez +5 more
doaj +1 more source
Nefrología (English Edition), 2023 Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome.
Pablo Rodríguez Doyágüez +5 more
doaj +1 more source
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 GeneticsIrene Simonetta +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 +1 more
doaj +1 more source
Anderson-Fabry Disease: A Multiorgan Disease [PDF]
Current Pharmaceutical Design, 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), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis ...
Antonino, Tuttolomondo +5 more
openaire +3 more sources
Neurological Complications of Anderson-Fabry Disease [PDF]
Current Pharmaceutical Design, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seem to be less severely affected.
Antonino, Tuttolomondo +6 more
openaire +3 more sources
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 +4 more
doaj +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 +3 more
doaj +1 more source