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Example sentences for: fabry
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No difference in the global vasomotor reserve was found between Fabry patients and controls before or following ERT.
Previously, we demonstrated that the resting rCBF in Fabry disease is elevated compared to controls particularly in the posterior circulation [ 5 ] . In view of the normal visual area reactivity in Fabry disease, these findings indicate that the Fabry group response to visual activation is largely explained by the elevated resting rCBF.
At the 30-minute time point the significantly elevated rCBF in the control group had disappeared while the significantly elevated rCBF in the Fabry group persisted (Figure 2, p = 0.003) indicating a prolonged cerebral vascular response time.
However, the more generalized cerebrovascular response noted in both the carotid and vertebro-basilar circulation suggests stimulus spread in Fabry disease, possibly due to a decreased response threshold in non-visual cortex vasculature.
Fabry disease is an X-linked disorder resulting in reduced activity of the lysosomal enzyme α-galactosidase A [ 1 2 ] . This results in the systemic accumulation of D-galatosyl conjugates, particularly globotriosylceramide (Gb3) [ 3 4 ] . Although the disorder is heterogeneous, patients suffer renal, cardiovascular and cerebrovascular complications [ 4 ] . Enzyme replacement therapy has recently shown to have an effect on resting cerebral blood flow abnormalities and on other organ systems functions [ 5 6 ] . In the cerebrovascular system there is an increased incidence of stroke together with vessel ectasia [ 7 ] . This may be related to the progressive accumulation of storage material in the cerebral vessel or possibly, may be due to an abnormality of vessel function [ 8 9 ] . The cerebrovascular complications are distributed predominantly in the posterior circulation with a progressive increase over time in the posterior distribution of small vessel disease as found on T 2 -weighted images or fluid attenuated inversion recovery (FLAIR) MR [ 7 10 11 ] . It likely that such high signal lesions on MR images represent ischemic small vessel disease, however, there are no neuropathological-radiological correlative studies confirming this assumption.
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