High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Koca S., TÜMER L. , OKUR İ. , ERTEN Y. , Bakkaloglu S. A. , BİBEROĞLU G. , ...More

Gene, vol.687, pp.280-288, 2019 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 687
  • Publication Date: 2019
  • Doi Number: 10.1016/j.gene.2018.11.054
  • Title of Journal : Gene
  • Page Numbers: pp.280-288
  • Keywords: Fabry disease, X-inactivation, Phenotype modifiers, Family screening, GALACTOSIDASE-A GENE, ALPHA-GALACTOSIDASE, NATURAL-HISTORY, MUTATIONS, DIAGNOSIS, MANIFESTATIONS, HOMOCYSTEINE, INVOLVEMENT, PREVALENCE, IMPACT

Abstract

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A.