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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura.

Ibrahim AlharbiSarah AlqarniWed KhayyatAmirah Almatrafi
Published in: Case reports in hematology (2021)
cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. Early detection and initiation of aggressive treatment with plasma infusion could be a life-saving strategy in such cases.
Keyphrases
  • low dose
  • cardiovascular events
  • genome wide
  • intellectual disability
  • coronary artery disease
  • autism spectrum disorder
  • combination therapy
  • muscular dystrophy
  • genome wide identification
  • replacement therapy