Associated Papers
A long-term neuropsychological evaluation in Fabry disease.
Loret G et al.
Acta Neurologica Belgica, 2021
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S et al.
Molecular Genetics and Metabolism, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Gal A et al.
Journal of Inherited Metabolic Disease, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Lai LW et al.
Clinical Genetics, 2003
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