The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

@article{Vedder2006TheDF,
  title={The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels},
  author={Anouk C. Vedder and Gabor E. Linthorst and M. J. van Breemen and Johanna E. M. Groener and Frederike Jos{\'e} Bemelman and Anneke Strijland and Marcel M. A. M. Mannens and Johannes M. F. G. Aerts and Carla E. M. Hollak},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={30},
  pages={68-78}
}
Background: Fabry disease (OMIM 301500) is an X-linked lysosomal storage disorder with characteristic vascular, renal, cardiac and cerebral complications. Globotriaosylceramide (Gb3) accumulates in Fabry patients as a result of α-galactosidase A deficiency. The phenotypic variability is high, but the relationship between clinical symptoms in individual Fabry patients has not been uniformly documented. Also, the relation between the most prominent biochemical abnormalities, elevated Gb3 levels… CONTINUE READING

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