Concepedia

The mutation D313Y may be associated with nervous system manifestations in Fabry disease

Christina Zompola, Lina Palaiodimou, Panagiotis Kokotis, Μarianna Papadopoulou, Aikaterini Theodorou, Nikolaos Sabanis, Efterpi Theodoroula, Matilda Papathanasiou, Georgios Tsivgoulis, Elisabeth Chroni

Journal of the Neurological Sciences · 2020 · 10 citations · 7 references

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References

7

Fabry's Disease: Alpha-Galactosidase Deficiency

J. Kint · Science · 1970 · 470 citations

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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Christine M. Eng, Lois A. Resnick-Silverman, D J Niehaus et al. · PubMed · 1993 · 220 citations

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Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

Jan Lukáš, Anne‐Katrin Giese, Arseni Markoff et al. · PLoS Genetics · 2013 · 160 citations · Full text

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Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

Roseline Froissart · Molecular Genetics and Metabolism · 2003 · 128 citations

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Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

Markus Niemann, Arndt Rolfs, Anne‐Katrin Giese et al. · JIMD Reports · 2012 · 59 citations · Full text

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