@article{GermainBrandBurlinaetal.2018,
  author    = {Dominique P. Germain and Eva Brand and Alessandro Burlina and Franco Cecchi and Scott C. Garman and Judy Kempf and Dawn A. Laney and Aleš Linhart and L{\´a}szl{\´o} Mar{\´o}di and Kathy Nicholls and Alberto Ortiz and Federico Pieruzzi and Suma P. Shankar and Stephen Waldek and Christoph Wanner and Ana Jovanovic},
  title     = {Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study},
  journal   = {Molecular Genetics \& Genomic Medicine},
  volume    = {6},
  doi       = {10.1002/mgg3.389},
  year      = {2018},
}