Results 141 to 150 of about 10,230 (170)

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

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis. [PDF]

, 2016
Beer, A.M., Brown-Wright, S.H., Cooper-Knock, J., Fletcher, S., Nandakumar, T.P., Shaw, P.J.   +5 more
core   +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

Processing of mitochondrial precursor proteins [PDF]

, 1984
Neupert, Walter, Schmidt, Bernd
core  

Terapia enzimatica sostitutiva nella malattia di Fabry: cosa abbiamo imparato dallo switch?

, 2014
Pisani, Antonio, Riccio, Eleonora
core