Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

@article{Vedder2007FailureTD,
  title={Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males},
  author={A. C. Vedder and V. E. A. Gerdes and B. J. H. M. Poorthuis and Mariette T J Helmond and M. D. Trip and J. M. F. G. Aerts and C Hollak},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={30},
  pages={988}
}
SummaryFabry disease, or α-galactosidase A (α-Gal A) deficiency, is a lysosomal storage disorder in which accumulation of globotriaosylceramide (Gb3) is thought to be responsible for the development of renal, cardiac and cerebral complications. The availability of enzyme replacement therapy has led to an increased awareness and the screening of patients suffering from complications that may be associated with Fabry disease. An association between α-Gal A deficiency and atherosclerosis has been… CONTINUE READING

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