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ISTH 2020 Congress

Platelet Disorders and von Willebrand Disease » Platelet Function Disorders, Hereditary

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    • Platelet Disorders and von Willebrand Disease
      • Platelet Function Disorders, Hereditary

Abstract Number: PB1485

A Whole Blood Flow Cytometric Method for Diagnosis of Platelet Function Disorders

R.G. Dave1, T. Geevar1, R. V.1, S. Singh1, A. Abraham2, A. Srivastava2, S.C. Nair1

Abstract Number: PB1515

Association of Genetic Variability in Selected Genes in Patients with Deep Vein Thrombosis and Platelet Hyperaggregability

L. Lisá, J. Sokol, J. Ivanková, J. Zolkova, L. Vadelova, I. Plamenova, J. Stasko

Abstract Number: PB1495

Clinical and Molecular Characterization of Chinese Patients with Wiskott-Aldrich Syndrome

X. Zhang1, D. Zhang2, R. Yang2, F. Zhou1

Abstract Number: PB1503

Clinico-pathological Spectrum of GlanzmannThrombasthenia

D. Chandra, R. Gupta, K. Rahman, M. Singh, S. Nityanand

Abstract Number: OC 13.3

Combination of New Homozygous MPIG6B and SH2B3 Variants Leads to Early Onset Myelofibrosis, Thrombocytopenia and Abnormal Platelet Function

M.-C. Morel-Kopp1,2, M. Levade1, Q. Chen1,2, A. Livings2, J. Curtin3, Y. Zhu4, C. Ward1,2, W. Stevenson1,2

Abstract Number: PB1498

Correlation GLATIT Scores and the Number of Bleeding Episodes in the Assessment of the Prognosis of Inherited Platelet Disorder

R. Messaoudi, D.Saidi, H.Touhami

Abstract Number: PB1513

Current Data About Arterial Thrombotic Events in Cerebrovascular Circulation Caused by Sticky Platelet Syndrome in the National Registry of Thrombophilic States in Slovak Republic

M. Brunclikova1, L. Stanciakova2, J. Ivankova2, M. Skerenova3, M. Dobrotova2, P. Holly2, T. Simurda2, P. Kubisz2, J. Stasko2

Abstract Number: PB1488

Defective Endocytosis of Albumin, Fibrinogen and IgG in Platelets with RUNX1 Haplodeficiency

F. Del Carpio-Cano1, G. Mao2, L. Goldfinger3, J. Wurtzel3, A.K. Rao1

Abstract Number: PB1502

Defective RAB31-mediated Endosomal Trafficking in RUNX1 Haplodeficiency

G. Jalagadugula1, G. Mao1, L. Goldfinger2, J. Wurtzel2, M. Lambert3, A.K. Rao1

Abstract Number: PB1500

Efficacy of Novoseven in the Treatment of Bleeding Episodes During Glanzmann´s Thrombasthenia

R. Messaoudi, Z.Zouaoui , H.Touhami

Abstract Number: PB1496

Genetic Characterization of Inherited Platelet Disorders in a Single Portuguese Center for Coagulopathies

S. Morais1, C. Lau1, C. Monteiro1, M. Pereira1, M. Gonçalves1, A. Gonçalves2, J. Oliveira2, E. Cruz1, R. Santos2, M. Lima1

Abstract Number: PB1493

Glanzmann Thrombasthenia in Pakistani Patients: Biochemical Analyses & Identification of Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3

M.Y.J. Siddiqi1, D. Boeckelmann2, A. Naz1, S. Ahmed1, A. Najmuddin3, A. Imran4, B. Zieger2, T.S. Shamsi1

Abstract Number: PB1509

Glanzmann Thrombasthenia-like Syndrome: Report of 2 Cases

K. Mendi1,2, M. Dahmane1,2, V. Jallu3, R. Petermann3

Abstract Number: PB1504

Global Tests of Primary Hemostasis for the Diagnosis of Mild/Moderate Bleeding Disorders (MMBD): Rehabilitating the Skin Bleeding Time

A. Baccolo, E. Falcinelli, A.M. Mezzasoma, P. Gresele

Abstract Number: PB1516

Gynaecological Outcomes in Women with Inherited Platelet Function Disorders: Preliminary Data from the ISTH REDCap Registry

D. Obeng-Tuudah1,2,3, A. Epstein2, I. Ben Amor4, W. Thomas5, M. El Ekiaby6, T. Nwagha7, N. Hossain8, M.Z. Núñez Payamps9, G. Castaman10, A. Mumford11, K. Gomez1,2, R.A. Kadir1,2,3

Abstract Number: PB1487

Hemarthrosis and Chronic Synovitis in Glanzmann Thrombasthenia

R. Tarawah1, A. Tarawah2

Abstract Number: PB1506

Identification of a Novel Molecular Variant in the PTGS1 Gene that Causes a Loss of a Glycan in the Catalytic Domain, Defects in Platelet Thromboxane A2 Synthesis, and Bleeding

V. Palma-Barqueros1, M. Crescente2, M. Chan2, M.E. de la Morena-Barrio3, J.M. Bastida4, N. Bohdan3, E. Almarza5, S. Suarez-Varela6, I. Casas-Aviles6, J. Padilla3, A. Rodriguez-Alen7, A. Marin-Quilez4, N. Revilla3, V. Vicente3, J. Corral3, M.L. Edin8, D. Zelding8, M.L. Lozano3, T. Warner2, J. Rivera3

Abstract Number: PB1494

Inherited Platelet Disorders: Identification of Novel Disease Causing Variants Using Next Generation Sequencing

D. Boeckelmann, F. Sobotta, S. Fels, H. Glonnegger, F. Loewecke, A. Lenz, B. Zieger

Abstract Number: PB1510

LAD III, Platelet Pathology Related to GT: A Case Report

K. Mendi1,2, M. Dahmane1,2, V. Jallu3, R. Petermann3

Abstract Number: PB1508

Molecular Insights into Glanzmann’s Thrombasthenia through Family Forums for Gene Sequencing and Discovery

D. Nugent1, S. Williams1, J. Hoang1, J. Brewer2

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