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]
Giacalone I +13 more
europepmc +1 more source
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation [PDF]
core +1 more source
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]
Blanco R +19 more
europepmc +1 more source
CMR demonstration of multiple morphological phenotypes in Anderson-Fabry disease [PDF]
core +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]
Zedde M +11 more
europepmc +1 more source
Isolated ‘cardiac Variant’ of Anderson-fabry Disease Diagnosed by CMR
Husna Mohd Zaki +10 more
doaj +1 more source
Can Amyloid and Anderson-fabry Disease Have a CMR Overlap Syndrome?
Saed Alnaimat +6 more
doaj +1 more source
Terapia enzimatica sostitutiva nella malattia di Fabry: cosa abbiamo imparato dallo switch?
Pisani, Antonio, Riccio, Eleonora
core
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