Results 11 to 20 of about 10,310 (200)

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease [PDF]

Cells
Anderson–Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accumulation of globotriaosylceramide (Gb3) and its derivative lyso-Gb3
Irene Simonetta, Irene Baglio, Antonino Tuttolomondo   +2 more
doaj   +2 more sources

Role of standard echocardiography in Anderson–Fabry disease [PDF]

Frontiers in Cardiovascular Medicine
Cardiac involvement strongly impacts prognosis in patients with Anderson–Fabry disease (AFD). All cardiac structures, such as the left ventricle and the left atrium, the aorta, the right sections, and the heart valves can be affected by morphological and
Maddalena Conte, Giuseppe Cioffi, Maria Grazia Romeo, Laura Petraglia, Erika Parente, Paolo Poggio, Paolo Poggio, Veronika Myasoedova, Vincenzo Russo, Raffaella Lauro, Roberta Accardo, Dario Leosco, Valentina Parisi   +12 more
doaj   +2 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 ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +4 more sources

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

Circulation, 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   +3 more sources

Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? [PDF]

Biomedicines, 2022
Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS).
Marialuisa Zedde, Rosario Pascarella, Francesco Cavallieri, Francesca Romana Pezzella, Sara Grisanti, Alessio Di Fonzo, Franco Valzania   +6 more
doaj   +2 more sources

Pathologic substrate of gastropathy in Anderson-Fabry disease [PDF]

Orphanet Journal of Rare Diseases, 2020
In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate.
Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini   +9 more
doaj   +2 more sources

An Unusual Case of Anderson-Fabry Disease: Case Report [PDF]

JMIR Dermatology
Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease;
Alpana Mohta, Achala Mohta, Pramila Kumari   +2 more
doaj   +2 more sources

Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease [PDF]

JACC: Case Reports
Severe degenerative mitral regurgitation (DMR) is one cardiac manifestation of the multiorgan metabolic enzyme disorder Anderson-Fabry Disease (AFD). Although DMR is normally managed surgically, many patients with AFD are unsuitable for this.
Mohamed Elwashahy, MD, Jason Sharp, MBBS, Dennis Wang, MBBS, Tuan Nguyen-Dang, MD, Jorge Moragues, MD, Edward J.F. Danson, BMBCh, MA(Oxon), DPhil(Lond)   +5 more
doaj   +2 more sources

Cardiac involvement in Anderson–Fabry disease. The role of advanced echocardiography [PDF]

Frontiers in Cardiovascular Medicine
Anderson–Fabry disease (AFD) is a lysosomal storage disorder, depending on defects in alpha galactosidase A activity, due to a mutation in the galactosidase alpha gene. Cardiovascular involvement represents the leading cause of death in AFD.
Letizia Spinelli, Antonio Bianco, Eleonora Riccio, Antonio Pisani, Guido Iaccarino, Guido Iaccarino   +5 more
doaj   +2 more sources

A Non-Invasive Technique to Unveil Renal Implications in Anderson–Fabry Disease [PDF]

Biomedicines
Background: Anderson–Fabry disease (AFD) is a rare genetic disorder characterized by a deficiency of α-galactosidase A activity and the accumulation of glycosphingolipids in tissues, which leads to multiorgan damage.
Matteo Gravina, Dario Troise, Barbara Infante, Luciano Tartaglia, Bruno Minopoli, Costanza Allegra, Grazia Casavecchia, Marcella Gambacorta, Carmen Montanile, Silvia Mercuri, Luca Macarini, Giovanni Stallone   +11 more
doaj   +2 more sources