Results 131 to 140 of about 31,122 (181)

Potential Pathogenetic Role of the D313Y Mutation in the <i>GLA</i> Gene in Anderson Fabry Disease: Two Case Reports. [PDF]

Int J Mol Sci
La Russa A, Siniscalchi A, Bonaventura A, Di Noia D, Valsania T, Stallone G, Tartaglia L, Chiapparino C, Di Rienzo G, Coppolino G, Bolignano D, Faga T, Michael A, Montesanto A, Serra R, Andreucci M.   +15 more
europepmc   +1 more source

The distribution of hypertrophy in anderson fabry disease

Journal of Cardiovascular Magnetic Resonance, 2011
Elliott Perry M, Banypersad Sanjay M, Sado Daniel M, Moon James C   +3 more
doaj   +1 more source

An echocardiographic prognostic risk stratification decision tree to determine adverse events in Anderson-Fabry disease. [PDF]

Eur Heart J Imaging Methods Pract
Stefani L, Boyd A, Pham J, Zada M, Emerson P, Devine K, Tchan M, Thomas L.   +7 more
europepmc   +1 more source

The Identification of a Novel Pathogenic Variant of the <i>GLA</i> Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study. [PDF]

Int J Mol Sci
Giacalone I, Ruzzi L, Anania M, Cuonzo M, Marsana EM, Mastrippolito S, Francofonte D, Bucco S, D'Errico A, Longo MO, Zizzo C, Iarlori L, Duro G, Colomba P.   +13 more
europepmc   +1 more source

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T.   +19 more
europepmc   +1 more source

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

Cells
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   +1 more source

Isolated ‘cardiac Variant’ of Anderson-fabry Disease Diagnosed by CMR

Journal of Cardiovascular Magnetic Resonance
Husna Mohd Zaki, Zeyad Elmarzouky, MD, Riham Elbialy, Ihab Abdelgawwad, Omar Tawfik, Safa Daghem, Iwan Harries, PhD, Mark Hamilton, Gergely Szantho, MD, Eva Sammut, Nathan Manghat   +10 more
doaj   +1 more source

Can Amyloid and Anderson-fabry Disease Have a CMR Overlap Syndrome?

Journal of Cardiovascular Magnetic Resonance
Saed Alnaimat, Mariah Mascara, MD, Abdallah Naser, MD, Marco Kaldas, MD, Victor Farah, MD, FSCMR, Moneal Shah, MD, FSCMR, Robert Biederman, MD, FSCMR   +6 more
doaj   +1 more source

Treatment of Anderson-Fabry Disease

Current Pharmaceutical Design, 2020
Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs ...
Irene Simonetta, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, Antonio Pinto   +4 more
openaire   +3 more sources

Cutaneous Complications of Anderson-Fabry Disease

Current Pharmaceutical Design, 2013
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body ...
Giuseppe, Pistone, Daniele, Rizzo, Rita, Bongiorno Maria   +2 more
openaire   +4 more sources