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Seminars in Hematology
Volume 41, Issue 1
, Pages 83-89
, January 2004
Severe ADAMTS-13 deficiency in childhood
References
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- Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488–494
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Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis).
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- Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. J Pediatr. 2003;142:310–317
- . Subunit composition of plasma von Willebrand factor (Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE)). J Clin Invest. 1986;77:947–951
- Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. Kidney Int. 2003;63:1995–1999
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Schneppenheim R, Angerhaus D, Obser T, Oyen F, Scheiflinger F, Budde U: Dissecting the molecular mechanism of ADAMTS13 deficiency by expression of recombinant protein. Blood Suppl (in press)
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- . Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma. Acta Paediatr. 2002;91:1056–1059
PII: S0037-1963(03)00273-7
doi: 10.1053/j.seminhematol.2003.10.007
© 2004 Elsevier Inc. All rights reserved.
« Previous
Seminars in Hematology
Volume 41, Issue 1
, Pages 83-89
, January 2004
