Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

By K D MacDermot, A. Holmes, Alec Miners. Journal of Medical Genetics, 2001

899 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy (2003, background): “A recent study of obligate carrier females found significant disease manifestations in 20 of 60 women, including 17 of whom who had experienced transient ischemic attacks or cerebrovascular accidents (28).”
Fabry disease (2010, background): “End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy [25-27].”