Inherited platelet disorders.

K Sandrock-Lang, R Wentzell, S Santoso… - …, 2015 - europepmc.org
Inherited platelet disorders may be the cause of bleeding symptoms of varying severity as
platelets fail to fulfil their haemostatic role after vessel injury. Platelet disorders may be …

Inherited abnormalities of platelets

AT Nurden - Thrombosis and haemostasis, 1999 - thieme-connect.com
Genetic defects of platelets give rise to bleeding syndromes of varying severity. Affected
areas of platelet function include the glycoprotein (GP) effectors of adhesion and …

Inherited defectsof platelet function

AT Nurden, P Nurden - Reviews in clinical and experimental …, 2001 - Wiley Online Library
Inherited platelet defects bleeding syndromes underlie of varying severity. The Bernard–
Soulier syndrome and Glanzmann thrombasthenia are disorders of membrane …

Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease.

KJ Clemetson, JM Clemetson - Current Opinion in Hematology, 1994 - europepmc.org
Genetic defects of the blood platelet membrane glycoproteins, GPIIb-IIIa (alpha IIb/beta 3;
CD41/CD61) and GPIb-V-IX (CD42) are the origin of several rare bleeding disorders, the …

Platelet adhesive protein defect disorders

KJ Clemetson, JM Clemetson - Platelets in thrombotic and non …, 2002 - cambridge.org
The investigation of platelet defects causing bleeding disorders has been an important step
in determining the roles of the major glycoproteins in platelet function. In particular, Bernard …

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

R Diz-Küçükkaya - Hematology 2013, the American Society of …, 2013 - ashpublications.org
Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet
production, morphology, and function. The degree of thrombocytopenia and functional …

Genetic testing in the diagnostic evaluation of inherited platelet disorders

AT Nurden, M Fiore, X Pillois… - Seminars in thrombosis …, 2009 - thieme-connect.com
Inherited disorders of platelets give rise to rare bleeding syndromes through defects of
platelet function and/or platelet production. Platelet function testing by biological and …

Inherited platelet disorders: Management of the bleeding risk

A Dupuis, C Gachet - Transfusion Clinique et Biologique, 2018 - Elsevier
Inherited platelet disorders are rare bleeding syndromes due to either platelet function
abnormalities or thrombocytopenia which may be associated with functional defects. The …

Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization

PF Bray - Thrombosis and haemostasis, 1994 - thieme-connect.com
The characterization of inherited diseases of platelets has provided valuable information
about platelet physiology and platelet protein function. Genetic studies on patients with …

Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency

J Corral, R González-Conejero… - … , vol. 89, num. 3, p. 325 …, 2004 - diposit.ub.edu
Background and objectives: isolated platelet dense granule (PDG) deficiency is a
heterogeneous disorder frequently found among patients with mild to moderate bleeding …