Words similar to globotriosylceramide
Example sentences for: globotriosylceramide
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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.