Results 31 to 40 of about 62,873 (218)

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

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

Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease. [PDF]

Cell Death Dis, 2021
Enzyme replacement therapy (ERT) is a mainstay of treatment for Anderson–Fabry disease (AFD), a pathology with negative effects on the heart and kidneys. However, no reliable biomarkers are available to monitor its efficacy.
Salamon I, Biagini E, Kunderfranco P, Kunderfranco P, Roncarati R, Ferracin M, Taglieri N, Nardi E, Laprovitera N, Tomasi L, Santostefano M, Ditaranto R, Vitale G, Cavarretta E, Pisani A, Riccio E, Aiello V, Capelli I, La Manna G, Galiè N, Spinelli L, Condorelli G.   +21 more
europepmc   +2 more sources

Cardiac damage in Anderson–Fabry disease (clinical case)

Клинический разбор в общей медицине
The fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment.
Olga V. Dimitrieva, Olga V. Dimitrieva, Izolda V. Karzakova, Vadim E. Babokin, Vadim E. Babokin, Vadim E. Babokin, Larisa V. Tarasova, Larisa V. Tarasova, Larisa V. Tarasova, Aleksandra V. Dubova, Aleksandra V. Dubova   +10 more
doaj   +2 more sources

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review. [PDF]

Int J Environ Res Public Health, 2021
Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults and ...
Caputo F, Lungaro L, Galdi A, Zoli E, Giancola F, Caio G, De Giorgio R, Zoli G.   +7 more
europepmc   +2 more sources

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism. [PDF]

Cells
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire body. Among its manifestation, the involvement of the central and peripheral nervous system is frequent.
Zedde M, Romani I, Scaravilli A, Cocozza S, Trojano L, Ragno M, Rifino N, Bersano A, Gerevini S, Pantoni L, Valzania F, Pascarella R.   +11 more
europepmc   +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

Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art

Diagnostics, 2023
Anderson-Fabry disease (AFD) is a rare multisystem X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency. Long-term cardiac involvement in AFD results in left ventricular hypertrophy and myocardial fibrosis, inducing several ...
Andrea Ponsiglione, Marco De Giorgi, Raffaele Ascione, Carmela Nappi, Luca Sanduzzi, Antonio Pisani, Serena Dell’Aversana, Alberto Cuocolo, Massimo Imbriaco   +8 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