Results 11 to 20 of about 57,841 (208)

The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient [PDF]

Clinical Case Reports
Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns.
Yasmine Elsherif, Ismail A. Ibrahim, Omar Elsherif, Hana J. Abukhadijah   +3 more
doaj   +4 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   +3 more sources

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement [PDF]

Diagnostics
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A).
Annamaria Iorio, Fabiana Lucà, Andrea Pozzi, Carmelo Massimiliano Rao, Cristina Chimenti, Stefania Angela Di Fusco, Roberta Rossini, Giorgio Caretta, Stefano Cornara, Simona Giubilato, Irene Di Matteo, Concetta Di Nora, Anna Pilleri, Sandro Gelsomino, Roberto Ceravolo, Carmine Riccio, Massimo Grimaldi, Furio Colivicchi, Fabrizio Oliva, Michele Massimo Gulizia, the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)   +20 more
doaj   +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   +3 more sources

А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease [PDF]

Българска кардиология
Anderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of  the heart, kidney and brain ...
M. Dimova, M. Gospodinova, K, Genova, E. Paskalev, V. Velchev   +4 more
doaj   +4 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

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

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