{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["DiGiandomenico S"],"funding":["U.S. Department of Health and Human Services","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","Midwest Athletes Against Childhood Cancer"],"pagination":["131-138"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7790985"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(1)"],"pubmed_abstract":["Essentials Patients with von Willebrand disease were enrolled in our study. Type 2 VWD diagnoses were based on original test results. Repeat evaluation resulted in many patients receiving a different type 2 diagnosis. Some genetic variants were particularly likely to move type 2 subcategories. ABSTRACT: Introduction Type 2 von Willebrand disease (VWD) refers to patients with a qualitative defect in von Willebrand factor. Accurate diagnosis of type 2 VWD subtypes can be challenging. Aim of the study To compare the historical diagnosis of type 2 VWD with current laboratory testing. Methods Subjects were enrolled in the Zimmerman Program either because of a preexisting diagnosis of VWD (retrospective cohort) or from evaluation for bleeding symptoms or suspected VWD (prospective cohort). Origi"],"journal":["Journal of thrombosis and haemostasis : JTH"],"pubmed_title":["Laboratory variability in the diagnosis of type 2 VWD variants."],"pmcid":["PMC7790985"],"funding_grant_id":["HL136430","R01 HL112614","HL081588","HL126810","R01 HL136430","R01 HL126810","HL144457","P01 HL144457","P01 HL081588","HL112614","R01 HL139847"],"pubmed_authors":["Ragni M","Konkle B","Brown D","Abshire T","Gill J","Tarantino M","Zimmerman Program Investigators","Christopherson PA","James P","Lillicrap D","Werner E","DiGiandomenico S","Abshire TC","Shapiro A","Kulkarni R","Paola JD","Gruppo R","Journeycake J","Sharathkumar A","Hord J","DiMichele D","Singer T","Shafer F","Montgomery RR","Valentino L","Bedros A","Mathias L","Paidas M","Dunn A","Kerlin B","Diamond C","Hoots WK","Manco-Johnson M","Flood VH","Stein D","Rajpurkar M","Leissinger C","Lentz S","Cuker A","Boggio L","Neff A","Bennett C","Haberichter SL","Matsunaga A","Lusher J","Paroskie A","Kouides P","Ma A","Cohen A","Mahoney D","Giardina P","Roberts J"],"additional_accession":[]},"is_claimable":false,"name":"Laboratory variability in the diagnosis of type 2 VWD variants.","description":"Essentials Patients with von Willebrand disease were enrolled in our study. Type 2 VWD diagnoses were based on original test results. Repeat evaluation resulted in many patients receiving a different type 2 diagnosis. Some genetic variants were particularly likely to move type 2 subcategories. ABSTRACT: Introduction Type 2 von Willebrand disease (VWD) refers to patients with a qualitative defect in von Willebrand factor. Accurate diagnosis of type 2 VWD subtypes can be challenging. Aim of the study To compare the historical diagnosis of type 2 VWD with current laboratory testing. Methods Subjects were enrolled in the Zimmerman Program either because of a preexisting diagnosis of VWD (retrospective cohort) or from evaluation for bleeding symptoms or suspected VWD (prospective cohort). Origi","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2025-04-21T21:35:10.132Z","creation":"2022-02-11T13:38:01.34Z"},"accession":"S-EPMC7790985","cross_references":{"pubmed":["33049112"],"doi":["10.1111/jth.15129"]}}