Is Upshaw-Schulman syndrome congenital thrombotic thrombocytopenic purpura or hemolytic-uremic syndrome? Yes to both.
Fujimura
Y
Y
D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; D003937:Diagnosis, Differential; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis*; D006801:Humans; D008666:Metalloendopeptidases / Q000097:blood / Q000235:genetics; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis*; D013577:Syndrome
D051722:ADAM Proteins; D008666:Metalloendopeptidases; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human