Concepedia

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

Markus Niemann, Arndt Rolfs, Anne‐Katrin Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann

JIMD Reports · 2012 · 59 citations · 13 references

DOIFull text

Open access

Concepts

References

13

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

, , +14

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

, , +8

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

Mariëlle J. van Breemen, Saskia M. Rombach, Nick Dekker et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 148 citations · Full text

, , +5

Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Makiko Yasuda, Junaid Shabbeer, Stacy D. Benson et al. · Human Mutation · 2003 · 146 citations

, , +17

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

, , +4