Associated Papers
Lifesaving Diagnosis through Prenatal Genomic Sequencing.
Fennell AP et al.
The New England Journal of Medicine, 2025
40601945 (PubMed )
Supplement: nejmc2506080_appendix.pdf
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
38935915 (PubMed )
Supplement: BLOODA_ADV-2024-013421-mmc1.pdf
A Case of Parturient with Hereditary Thrombotic Thrombocytopenic Purpura: Case Report of a Novel Variant.
Chen JK et al.
Seminars in Thrombosis and Hemostasis, 2022
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.
Borogovac A et al.
Blood Advances, 2022
34807988 (PubMed )
Supplement: advancesADV2021005760-suppl1.pdf
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM10_ESM.xlsx › HGMD
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.
Li P et al.
Bmc Medical Genomics, 2021
Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.
Wyatt KD et al.
Journal of Pediatric Hematology/oncology, 2021
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
Joly BS et al.
Thrombosis and Haemostasis, 2018
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant.
Conboy E et al.
Journal of Pediatric Hematology/oncology, 2018
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.
Hing ZA et al.
British Journal of Haematology, 2013
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.
Camilleri RS et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
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