Associated Papers
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P et al.
Nephron, 2020
Maternal germline mosaicism in Fabry disease.
Pianese L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Low frequency of Fabry disease in patients with common heart disease.
Schiffmann R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.
Zizzo C et al.
Kidney & Blood Pressure Research, 2018
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
Tuttolomondo A et al.
Oncotarget, 2017
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Tuttolomondo A et al.
Clinical Biochemistry, 2015
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.
Samuelsson K et al.
Journal of Clinical Neurology (seoul, Korea), 2014
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
Bono C et al.
Bmc Research Notes, 2011
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
22194935 (PubMed )
Supplement: pone.0028872.s001.pdf
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