Patients with PPS lack proper glucosylation on TSR containing proteins [25]; however, they do not display features associated with a total loss of function of many proteins modified by B3GLCT, e.g. PPS patients do not display ADAMTS13 deficiency (Thrombotic thrombocytopenic purpura). The gene discussed is ADAMTS13; the disease is thrombotic thrombocytopenic purpura.