A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13 (original) (raw)
A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report
Bipin Kulkarni
Transfusion, 2017
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Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Louis Wadsworth
Blood, 2004
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Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
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Kidney International, 2004
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ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
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Human Mutation, 2010
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A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura
/간호학과 이선희
Annals of clinical and laboratory science, 2011
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Journal of Thrombosis and Haemostasis, 2006
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Immune and Hereditary Thrombotic Thrombocytopenic Purpura: Can ADAMTS13 Deficiency Alone Explain the Different Clinical Phenotypes?
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Thrombotic Thrombocytopenic Purpura: A Thrombotic Disorder Caused by ADAMTS13 Deficiency
P. Ormos
Hematology/Oncology Clinics of North America, 2007
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The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura
Roberta Palla
Haematologica-the Hematology Journal, 2009
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Deficiency of ADAMTS13 and thrombotic thrombocytopenic purpura
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Blood, 2002
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Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
Ravindra Sarode
Nature, 2001
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Deficiency of ADAMTS13 causes thrombotic thrombocytopenic purpura. Editorial
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Arteriosclerosis Thrombosis and Vascular Biology, 2003
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Deficiency of ADAMTS13 Causes Thrombotic Thrombocytopenic Purpura
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2010
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Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura
Toshiyuki Miyata
Blood, 2006
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Report of two unrelated cases of Familial Thrombotic Thrombocytopeic Purpura
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Iranian Journal of Pediatric Hematology & Oncology, 2021
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ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura
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ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment
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Clinical journal of the American Society of Nephrology : CJASN, 2015
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Diagnostic relevance of ADAMTS13 activity: Evaluation of 28 patients with thrombotic thrombocytopenic purpura - hemolytic uremic syndrome clinical diagnosis
Dragica Vucelić, Dragana Jevtic
Srpski arhiv za celokupno lekarstvo, 2013
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Thrombotic Thrombocytopenic Purpura (ADAMTS13 [a Disintegrin and Metalloproteinase With a Thrombospondin Type 1 Motif, Member 13] Deficiency) as Cause of Recurrent Multiterritory Ischemic Strokes
Zimbul Albo
Stroke, 2022
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Congenital thrombotic thrombocytopenic purpura due to a novel homozygous mutation in the ADAMTS13 gene: a case report
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Hematology & transfusion international journal, 2022
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Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
C. Desconclois
Pediatric Nephrology, 2009
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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
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Haematologica, 2019
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Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy
Narendranath Epperla
American Journal of Hematology, 2016
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ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura
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European Journal of Pediatrics, 2006
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Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura
Valentina Bianchi
Blood, 2002
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Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland
Johanna Kremer
Hämostaseologie, 2020
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Congenital ADAMTS-13 deficiency presenting as life-threatening thrombosis during pregnancy
faheema hasan
2021
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