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6. The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice. De Cock E; Hermans C; De Raeymaecker J; De Ceunynck K; De Maeyer B; Vandeputte N; Vandenbulcke A; Deckmyn H; Rottensteiner H; De Maeyer M; De Meyer SF; Vanhoorelbeke K J Thromb Haemost; 2015 Feb; 13(2):283-92. PubMed ID: 25442981 [TBL] [Abstract][Full Text] [Related]
8. A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura. Lee SH; Park JH; Park SK; Lee EH; Choi JI; Visentin GP; Park TS; Oh SH; Kim SR Ann Clin Lab Sci; 2011; 41(3):273-6. PubMed ID: 22075512 [TBL] [Abstract][Full Text] [Related]
9. Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children. Loirat C; Veyradier A; Girma JP; Ribba AS; Meyer D Semin Thromb Hemost; 2006 Mar; 32(2):90-7. PubMed ID: 16575683 [TBL] [Abstract][Full Text] [Related]
10. In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. Donadelli R; Banterla F; Galbusera M; Capoferri C; Bucchioni S; Gastoldi S; Nosari S; Monteferrante G; Ruggeri ZM; Bresin E; Scheiflinger F; Rossi E; Martinez C; Coppo R; Remuzzi G; Noris M; Thromb Haemost; 2006 Oct; 96(4):454-64. PubMed ID: 17003922 [TBL] [Abstract][Full Text] [Related]
11. [Siblings with congenital thrombotic thrombocytopenic purpura]. Funakoshi Y; Okada M; Matsumoto M; Kokame K; Moriuchi H Rinsho Ketsueki; 2017; 58(8):933-937. PubMed ID: 28883277 [TBL] [Abstract][Full Text] [Related]
12. Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency. Yagi H; Matsumoto M; Fujimura Y Presse Med; 2012 Mar; 41(3 Pt 2):e137-55. PubMed ID: 22264931 [TBL] [Abstract][Full Text] [Related]
13. A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. Meyer SC; Jeddi R; Meddeb B; Gouider E; Lämmle B; Kremer Hovinga JA Ann Hematol; 2008 Aug; 87(8):663-6. PubMed ID: 18443791 [TBL] [Abstract][Full Text] [Related]
14. [From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]. Schiphorst RH; van de Kar NC; van den Heuvel LP Ned Tijdschr Geneeskd; 2003 Dec; 147(49):2422-4. PubMed ID: 14694551 [TBL] [Abstract][Full Text] [Related]
16. Thrombotic thrombocytopenic purpura and other thrombotic microangiopathic hemolytic anemias: diagnosis and classification. Shenkman B; Einav Y Autoimmun Rev; 2014; 13(4-5):584-6. PubMed ID: 24418304 [TBL] [Abstract][Full Text] [Related]
17. The emerging concept of residual ADAMTS13 activity in ADAMTS13-deficient thrombotic thrombocytopenic purpura. Lotta LA; Wu HM; Musallam KM; Peyvandi F Blood Rev; 2013 Mar; 27(2):71-6. PubMed ID: 23415418 [TBL] [Abstract][Full Text] [Related]
18. Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children. Loirat C; Girma JP; Desconclois C; Coppo P; Veyradier A Pediatr Nephrol; 2009 Jan; 24(1):19-29. PubMed ID: 18574602 [TBL] [Abstract][Full Text] [Related]
19. A common origin of the 4143insA ADAMTS13 mutation. Schneppenheim R; Kremer Hovinga JA; Becker T; Budde U; Karpman D; Brockhaus W; Hrachovinová I; Korczowski B; Oyen F; Rittich S; von Rosen J; Tjønnfjord GE; Pimanda JE; Wienker TF; Lämmle B Thromb Haemost; 2006 Jul; 96(1):3-6. PubMed ID: 16807643 [TBL] [Abstract][Full Text] [Related]
20. Ten patient stories illustrating the extraordinarily diverse clinical features of patients with thrombotic thrombocytopenic purpura and severe ADAMTS13 deficiency. George JN; Chen Q; Deford CC; Al-Nouri Z J Clin Apher; 2012; 27(6):302-11. PubMed ID: 22927184 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]