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Example sentences for: fabry
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There was a significantly increased blood flow in the Fabry patients during visual stimulation compared to controls (Figure 1, p < 0.001).
The methodology for this work has been described in detail [ 5 ] . Twenty-six male hemizygote patients with Fabry disease (age range 19-48, mean age 33.
Mean absolute CBF in the visual cortex was significantly greater in Fabry patients during visual stimulation compared to the control group (p = 0.002).
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.
Our data indicate the presence of an abnormal functional response to visual stimulation both in global and regional CBF analysis in Fabry disease.
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