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About 497 results

ALLMedicine™ Glanzmann Thrombasthenia Center

Research & Reviews  247 results

Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthen...
https://doi.org/10.1016/j.bcmd.2021.102560
Blood Cells, Molecules & Diseases; Rosenberg N, Dardik R et. al.

Mar 12th, 2021 - Glanzmann thrombasthenia (GT) is a severe inherited platelet function disorder (IPFD), presenting with bleeding diathesis and impaired platelet aggregation, is caused by mutations in the genes ITGA2B or ITGB3. We aimed to study the genetic cause o...

Use of rFVIIa in Preventing Recurrent Intra-articular Hemorrhages in a 15-Year-Old Pati...
https://doi.org/10.1097/MPH.0000000000002105
Journal of Pediatric Hematology/oncology; Laguna P

Feb 24th, 2021 - Glanzmann thrombasthenia is a rare congenital thrombocytopathy. The first-line treatment in severe life-threatening bleeding is a transfusion of platelet concentrate or recombinant factor VIIa in the case of platelet transfusion refractoriness. We...

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expandin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717987
PloS One; Morais S, Oliveira J et. al.

Dec 4th, 2020 - Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrom...

A novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B ...
https://doi.org/10.1097/MBC.0000000000000972
Blood Coagulation & Fibrinolysis : an International Journ... Xu Q, Zhou M et. al.

Nov 16th, 2020 - Glanzmann thrombasthenia is a rare autosomal recessive genetic disease characterized by platelet aggregation dysfunction caused by a congenital defect of platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3). Integrin αIIbβ3, a calcium-depende...

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagn...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849565
Haematologica Nurden P, Stritt S et. al.

Nov 5th, 2020 - Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann thrombasthenia resulting from defects of ITGA2B and ITGB3, new inhe...

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Clinicaltrials.gov  249 results

Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthen...
https://doi.org/10.1016/j.bcmd.2021.102560
Blood Cells, Molecules & Diseases; Rosenberg N, Dardik R et. al.

Mar 12th, 2021 - Glanzmann thrombasthenia (GT) is a severe inherited platelet function disorder (IPFD), presenting with bleeding diathesis and impaired platelet aggregation, is caused by mutations in the genes ITGA2B or ITGB3. We aimed to study the genetic cause o...

Use of rFVIIa in Preventing Recurrent Intra-articular Hemorrhages in a 15-Year-Old Pati...
https://doi.org/10.1097/MPH.0000000000002105
Journal of Pediatric Hematology/oncology; Laguna P

Feb 24th, 2021 - Glanzmann thrombasthenia is a rare congenital thrombocytopathy. The first-line treatment in severe life-threatening bleeding is a transfusion of platelet concentrate or recombinant factor VIIa in the case of platelet transfusion refractoriness. We...

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expandin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717987
PloS One; Morais S, Oliveira J et. al.

Dec 4th, 2020 - Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrom...

A novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B ...
https://doi.org/10.1097/MBC.0000000000000972
Blood Coagulation & Fibrinolysis : an International Journ... Xu Q, Zhou M et. al.

Nov 16th, 2020 - Glanzmann thrombasthenia is a rare autosomal recessive genetic disease characterized by platelet aggregation dysfunction caused by a congenital defect of platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3). Integrin αIIbβ3, a calcium-depende...

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagn...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849565
Haematologica Nurden P, Stritt S et. al.

Nov 5th, 2020 - Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann thrombasthenia resulting from defects of ITGA2B and ITGB3, new inhe...

see more →

News  1 results

Mechanisms Behind Rare Clotting Disorder Exposed
https://www.medpagetoday.com/primarycare/preventivecare/3143

Apr 21st, 2006 - Action Points Explain to interested patients that Glanzmann thrombasthenia is a rare genetic blood disease in which the glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either deficient or dysfunctional, resulting in defective platelet aggregation. ...

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