Published in Blood Weekly, March 1st, 2012
"There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy: however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical...
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