Results 121 to 130 of about 10,310 (200)

Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [PDF]

, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene. Deficiency of α-galactosidase A (α-Gal A) causes intracellular accumulations of globotriaosylceramide (GL-3) and related glycosphingolipids in all ...
Bibby, Bo M., Birn, Henrik, Christensen, Erik I., Feldt-Rasmussen, Ulla, Nielsen, Rikke, Prabakaran, Thaneas, Regeniter, Axel, Sørensen, Søren S.   +7 more
core  

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. [PDF]

Front Cardiovasc Med, 2023
Averbuch T, White JA, Fine NM.
europepmc   +1 more source

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. [PDF]

Front Cardiovasc Med, 2023
Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E.   +29 more
europepmc   +1 more source

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN) [PDF]

, 2017
Background. In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function. Methods.
Barbey, Federic, Bostad, Leif, Breunig, Frank, Burns, Áine, Cook, William J., Ferluga, Dusan, Fogo, Agnes B., Geldenhuys, Laurette, Grünfeld, Jean-Pierre, Howie, Alexander J., Moll, Solange, Müller, Justus, Noël, Laure-Hélène, Oliveira, João Paulo, Reeve, Roy, Svarstad, Einar, Valbuena, Carmen, Vujkovac, Bojan, Waldek, Stephen, Warnock, David G., West, Michael, Zhang, Xiao   +21 more
core  

Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. [PDF]

Eur Radiol, 2023
Halfmann MC, Altmann S, Schoepf UJ, Reichardt C, Hennermann JB, Kreitner KF, Kloeckner R, Hahn F, Dueber C, Varga-Szemes A, Kampmann C, Emrich T.   +11 more
europepmc   +1 more source

Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation. [PDF]

CASE (Phila), 2023
Zhou GW, Yang F, Qiao F, Song ZG, Han L, Lu FL, Xu ZY.   +6 more
europepmc   +1 more source

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. [PDF]

J Inherit Metab Dis
Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB, Vitturi N.   +6 more
europepmc   +1 more source

Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease. [PDF]

Tex Heart Inst J, 2022
Powell AW, Wittekind SG, Mays WA, Lang SM, Knilans TK, Prada CE, Hopkin RJ, Chin C.   +7 more
europepmc   +1 more source

Basal septal T1 mapping and extracellular volume as discriminators in cardiac magnetic resonance evaluation of myocardial involvement in advanced Anderson-Fabry disease: a case description. [PDF]

Quant Imaging Med Surg, 2023
Du Y, Liu R, Ding S, Wang G.
europepmc   +1 more source

RNA-based therapeutic interventions for the management of Anderson-Fabry disease. [PDF]

Mol Ther Nucleic Acids
Cagnin S.
europepmc   +1 more source