{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T18:55:36Z","timestamp":1780599336464,"version":"3.54.1"},"reference-count":115,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Platelets play a major role in primary hemostasis, where activated platelets form plugs to stop hemorrhaging in response to vessel injuries. Defects in any step of the platelet activation process can cause a variety of platelet dysfunction conditions associated with bleeding. To make an accurate diagnosis, constitutional platelet dysfunction (CPDF) should be considered once von Willebrand disease and drug intake are ruled out. CPDF may be associated with thrombocytopenia or a genetic syndrome. CPDF diagnosis is complex, as no single test enables the analysis of all aspects of platelet function. Furthermore, the available tests lack standardization, and repeat tests must be performed in specialized laboratories especially for mild and moderate forms of the disease. In this review, we provide an overview of the laboratory tests used to diagnose CPDF, with a focus on light transmission platelet aggregation (LTA), flow cytometry (FC), and granules assessment. Global tests, mainly represented by LTA, are often initially performed to investigate the consequences of platelet activation on platelet aggregation in a single step. Global test results should be confirmed by additional analytical tests. FC represents an accurate, simple, and reliable test to analyze abnormalities in platelet receptors, and granule content and release. This technique may also be used to investigate platelet function by comparing resting- and activated-state platelet populations. Assessment of granule content and release also requires additional specialized analytical tests. High-throughput sequencing has become increasingly useful to diagnose CPDF. Advanced tests or external research laboratory techniques may also be beneficial in some cases.<\/jats:p>","DOI":"10.1055\/a-1223-3306","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T23:04:58Z","timestamp":1600211098000},"page":"444-459","source":"Crossref","is-referenced-by-count":14,"title":["Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction"],"prefix":"10.1055","volume":"40","author":[{"given":"Manal","family":"Ibrahim-Kosta","sequence":"additional","affiliation":[{"name":"Aix Marseille University, INSERM, INRAE, Marseille Cedex 05, France"},{"name":"Laboratory of Hematology, CHU Timone, Marseille Cedex 05, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Alessi","sequence":"additional","affiliation":[{"name":"Aix Marseille University, INSERM, INRAE, Marseille Cedex 05, France"},{"name":"Laboratory of Hematology, CHU Timone, Marseille Cedex 05, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Hezard","sequence":"additional","affiliation":[{"name":"Laboratory of Hematology, CHU Timone, Marseille Cedex 05, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,9,15]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1055\/s-0035-1564835","article-title":"Platelet physiology","volume":"42","author":"T Gremmel","year":"2016","journal-title":"Semin Thromb Hemost"},{"issue":"20","key":"ref2","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1182\/blood-2017-05-787259","article-title":"Procoagulant platelets: generation, function, and therapeutic targeting in thrombosis","volume":"130","author":"E O Agbani","year":"2017","journal-title":"Blood"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3389\/fcvm.2020.00015","article-title":"Procoagulant phosphatidylserine-exposing platelets in vitro and in vivo","volume":"7","author":"E C Reddy","year":"2020","journal-title":"Front Cardiovasc Med"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/jth.14683","article-title":"Validation of the ISTH\/SSC bleeding assessment tool for inherited platelet disorders: a communication from the platelet physiology SSC","volume":"18","author":"P Gresele","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/j.1365-2516.2007.01648.x","article-title":"Bleeding scores in inherited bleeding disorders: clinical or research tools?","volume":"14","author":"A Tosetto","year":"2008","journal-title":"Haemophilia"},{"issue":"01","key":"ref6","first-page":"14","article-title":"Shape and functional properties of human platelets washed with acid citrate","volume":"10","author":"H Patscheke","year":"1981","journal-title":"Haemostasis"},{"issue":"04","key":"ref7","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1002\/rth2.12240","article-title":"Platelet preparation for function testing in the laboratory and clinic: historical and practical aspects","volume":"3","author":"B Hechler","year":"2019","journal-title":"Res Pract Thromb Haemost"},{"issue":"S 01","key":"ref8","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/ijlh.12995","article-title":"Update on diagnostic testing for platelet function disorders: What is practical and useful?","volume":"41","author":"C PM Hayward","year":"2019","journal-title":"Int J Lab Hematol"},{"issue":"07","key":"ref9","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1182\/blood.V75.7.1383.1383","article-title":"Glanzmann's thrombasthenia: the spectrum of clinical disease","volume":"75","author":"J N George","year":"1990","journal-title":"Blood"},{"issue":"01","key":"ref10","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1365-2141.2011.08793.x","article-title":"Guidelines for the laboratory investigation of heritable disorders of platelet function","volume":"155","author":"P Harrison","year":"2011","journal-title":"Br J Haematol"},{"issue":"02","key":"ref11","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/jth.12792","article-title":"Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH","volume":"13","author":"P Gresele","year":"2015","journal-title":"J Thromb Haemost"},{"issue":"03","key":"ref12","doi-asserted-by":"crossref","first-page":"E763","DOI":"10.3390\/jcm9030763","article-title":"Strengths and weaknesses of light transmission aggregometry in diagnosing hereditary platelet function disorders","volume":"9","author":"M-C Alessi","year":"2020","journal-title":"J Clin Med"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12231","article-title":"Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the Platelet Physiology Subcommittee of SSC\/ISTH","author":"M Cattaneo","year":"2013","journal-title":"J Thromb Haemost"},{"issue":"04","key":"ref14","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/j.1538-7836.2008.02891.x","article-title":"Standardization of light transmittance aggregometry for monitoring antiplatelet therapy: an adjustment for platelet count is not necessary","volume":"6","author":"B Linnemann","year":"2008","journal-title":"J Thromb Haemost"},{"issue":"05","key":"ref15","doi-asserted-by":"crossref","first-page":"694","DOI":"10.3324\/haematol.10999","article-title":"Platelet aggregation studies: autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count","volume":"92","author":"M Cattaneo","year":"2007","journal-title":"Haematologica"},{"issue":"09","key":"ref16","doi-asserted-by":"crossref","first-page":"5273","DOI":"10.4049\/jimmunol.1003141","article-title":"A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion","volume":"186","author":"P Robert","year":"2011","journal-title":"J Immunol"},{"issue":"07","key":"ref17","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1084\/jem.20130477","article-title":"Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding","volume":"211","author":"M Canault","year":"2014","journal-title":"J Exp Med"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1042\/bj20020226","article-title":"Protein kinase C- and calcium-regulated pathways independently synergize with Gi pathways in agonist-induced fibrinogen receptor activation","volume":"368","author":"T M Quinton","year":"2002","journal-title":"Biochem J"},{"issue":"09","key":"ref19","doi-asserted-by":"crossref","first-page":"3228","DOI":"10.1182\/blood.V99.9.3228","article-title":"Glycoprotein VI-mediated platelet fibrinogen receptor activation occurs through calcium-sensitive and PKC-sensitive pathways without a requirement for secreted ADP","volume":"99","author":"T M Quinton","year":"2002","journal-title":"Blood"},{"issue":"12","key":"ref20","doi-asserted-by":"crossref","first-page":"2506","DOI":"10.1182\/blood-2009-04-218768","article-title":"CalDAG-GEFI is at the nexus of calcium-dependent platelet activation","volume":"114","author":"L Stefanini","year":"2009","journal-title":"Blood"},{"issue":"03","key":"ref21","doi-asserted-by":"crossref","first-page":"E1075","DOI":"10.3390\/ijms21031075","article-title":"RasGRP2 structure, function and genetic variants in platelet pathophysiology","volume":"21","author":"M Canault","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"06","key":"ref22","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1182\/blood-2013-07-517896","article-title":"Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis","volume":"125","author":"A Lecchi","year":"2015","journal-title":"Blood"},{"issue":"11","key":"ref23","doi-asserted-by":"crossref","first-page":"2787","DOI":"10.1182\/blood.V80.11.2787.2787","article-title":"Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate","volume":"80","author":"M Cattaneo","year":"1992","journal-title":"Blood"},{"issue":"05","key":"ref24","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/jth.12539","article-title":"A novel mutation in the P2Y12 receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding","volume":"12","author":"Y M Patel","year":"2014","journal-title":"J Thromb Haemost"},{"issue":"10","key":"ref25","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1111\/j.1538-7836.2005.01554.x","article-title":"Impaired platelet function in a patient with P2Y12 deficiency caused by a mutation in the translation initiation codon","volume":"3","author":"M Shiraga","year":"2005","journal-title":"J Thromb Haemost"},{"issue":"25","key":"ref26","doi-asserted-by":"crossref","first-page":"5041","DOI":"10.1182\/blood-2012-07-444281","article-title":"Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel","volume":"120","author":"B B Dawood","year":"2012","journal-title":"Blood"},{"issue":"19","key":"ref27","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1182\/blood-2018-04-845644","article-title":"A mutation of the human EPHB2 gene leads to a major platelet functional defect","volume":"132","author":"E Berrou","year":"2018","journal-title":"Blood"},{"issue":"25","key":"ref28","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1182\/blood.2019001543","article-title":"Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functions","volume":"134","author":"M Bellio","year":"2019","journal-title":"Blood"},{"issue":"06","key":"ref29","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1055\/s-0033-1353390","article-title":"Bernard-Soulier syndrome: an update","volume":"39","author":"R K Andrews","year":"2013","journal-title":"Semin Thromb Hemost"},{"issue":"03","key":"ref30","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajh.2830080308","article-title":"Von Willebrand disease with an increased ristocetin-induced platelet aggregation and a qualitative abnormality of the factor VIII protein","volume":"8","author":"H Takahashi","year":"1980","journal-title":"Am J Hematol"},{"issue":"05","key":"ref31","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1055\/s-0031-1281030","article-title":"Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder","volume":"37","author":"M Othman","year":"2011","journal-title":"Semin Thromb Hemost"},{"issue":"03","key":"ref32","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1055\/s-0037-1616126","article-title":"Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding","volume":"86","author":"K Freson","year":"2001","journal-title":"Thromb Haemost"},{"issue":"02","key":"ref33","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/0160-5402(80)90024-8","article-title":"The electronic aggregometer: a novel device for assessing platelet behavior in blood","volume":"3","author":"D C Cardinal","year":"1980","journal-title":"J Pharmacol Methods"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/978-1-4939-7196-1_26","article-title":"Whole Blood Platelet Aggregometry","volume":"1646","author":"G A Fritsma","year":"2017","journal-title":"Methods Mol Biol"},{"issue":"05","key":"ref35","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1093\/ajcp\/92.5.676","article-title":"Whole blood aggregometry. Influence of sample collection and delay in study performance on test results","volume":"92","author":"J D Sweeney","year":"1989","journal-title":"Am J Clin Pathol"},{"issue":"05","key":"ref36","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1093\/ajcp\/89.5.655","article-title":"The effect of the platelet count on the aggregation response and adenosine triphosphate release in an impedance lumi-aggregometer","volume":"89","author":"J D Sweeney","year":"1988","journal-title":"Am J Clin Pathol"},{"issue":"01","key":"ref37","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1177\/107602960501100103","article-title":"Approach to the assessment of platelet function: comparison between optical-based platelet-rich plasma and impedance-based whole blood platelet aggregation methods","volume":"11","author":"A M Dyszkiewicz-Korpanty","year":"2005","journal-title":"Clin Appl Thromb Hemost"},{"issue":"04","key":"ref38","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1111\/ijlh.12320","article-title":"Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry","volume":"37","author":"A Albanyan","year":"2015","journal-title":"Int J Lab Hematol"},{"issue":"05","key":"ref39","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1080\/09537100903006246","article-title":"Comparison of platelet aggregation using light transmission and multiple electrode aggregometry in Glanzmann thrombasthenia","volume":"20","author":"A Awidi","year":"2009","journal-title":"Platelets"},{"issue":"01","key":"ref40","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1093\/ajcp\/64.1.87","article-title":"The bleeding time as a test of hemostatic function","volume":"64","author":"A J Quick","year":"1975","journal-title":"Am J Clin Pathol"},{"issue":"01","key":"ref41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-2007-1002658","article-title":"A critical reappraisal of the bleeding time","volume":"16","author":"R P Rodgers","year":"1990","journal-title":"Semin Thromb Hemost"},{"issue":"04","key":"ref42","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/ajh.24620","article-title":"Clinical utility of closure times using the platelet function analyzer-100\/200","volume":"92","author":"E J Favaloro","year":"2017","journal-title":"Am J Hematol"},{"issue":"05","key":"ref43","doi-asserted-by":"crossref","first-page":"e103","DOI":"10.1111\/ijlh.12337","article-title":"Influence of platelet clumps on platelet function analyser (PFA)-200\u00ae testing","volume":"37","author":"S MN Mulliez","year":"2015","journal-title":"Int J Lab Hematol"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.thromres.2020.01.029","article-title":"Utility of the platelet function analyser (PFA-100\/200) for exclusion or detection of von Willebrand disease: a study 22 years in the making","volume":"188","author":"E J Favaloro","year":"2020","journal-title":"Thromb Res"},{"issue":"06","key":"ref45","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0049-3848(99)00152-8","article-title":"Comparison of PFA-100 closure time and template bleeding time of patients with inherited disorders causing defective platelet function","volume":"96","author":"A Ker\u00e9nyi","year":"1999","journal-title":"Thromb Res"},{"issue":"06","key":"ref46","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1080\/09537100802082256","article-title":"Testing agonist-induced platelet aggregation by the Impact-R [Cone and plate(let) analyzer (CPA)]","volume":"19","author":"B Shenkman","year":"2008","journal-title":"Platelets"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"133","DOI":"10.2147\/VHRM.S44469","article-title":"Platelet function tests: a comparative review","volume":"11","author":"R Paniccia","year":"2015","journal-title":"Vasc Health Risk Manag"},{"issue":"04","key":"ref48","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF03256290","article-title":"Plateletworks: a novel point of care platelet function screen","volume":"12","author":"J Campbell","year":"2008","journal-title":"Mol Diagn Ther"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.bcmd.2018.07.003","article-title":"A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures","volume":"72","author":"A A Barg","year":"2018","journal-title":"Blood Cells Mol Dis"},{"issue":"01","key":"ref50","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1097\/MBC.0000000000000532","article-title":"Perioperative ROTEM and ROTEM platelet monitoring in a case of Glanzmann's thrombasthenia","volume":"28","author":"A Grassetto","year":"2017","journal-title":"Blood Coagul Fibrinolysis"},{"issue":"02","key":"ref51","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ajh.23599","article-title":"TEG and ROTEM: technology and clinical applications","volume":"89","author":"D Whiting","year":"2014","journal-title":"Am J Hematol"},{"issue":"02","key":"ref52","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0092-8674(00)80983-6","article-title":"Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor","volume":"84","author":"B Savage","year":"1996","journal-title":"Cell"},{"issue":"03","key":"ref53","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1111\/jth.14717","article-title":"In vitro flow based systems to study platelet function and thrombus formation: Recommendations for standardization: communication from the SSC on Biorheology of the ISTH","volume":"18","author":"P H Mangin","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"01","key":"ref54","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1055\/s-0037-1613607","article-title":"Unexpected persistence of platelet hyporeactivity beyond the neonatal period: a flow cytometric study in neonates, infants and older children","volume":"90","author":"N H\u00e9zard","year":"2003","journal-title":"Thromb Haemost"},{"issue":"04","key":"ref55","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1080\/09537104.2018.1513473","article-title":"Flow cytometry for pediatric platelets","volume":"30","author":"A A Ignatova","year":"2019","journal-title":"Platelets"},{"issue":"03","key":"ref56","first-page":"377","article-title":"[Analysis of Glanzmann's thrombasthenia and Bernard-Soulier syndrome using flow cytometry]","volume":"28","author":"S Nomura","year":"1987","journal-title":"Rinsho Ketsueki"},{"issue":"01","key":"ref57","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1182\/blood.V68.1.173.173","article-title":"Analysis of human platelet glycoproteins IIb-IIIa and Glanzmann's thrombasthenia in whole blood by flow cytometry","volume":"68","author":"L K Jennings","year":"1986","journal-title":"Blood"},{"issue":"03","key":"ref58","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1055\/s-0038-1653807","article-title":"Platelet unresponsiveness to collagen: involvement of glycoprotein Ia-IIa (alpha 2 beta 1 integrin) deficiency associated with a myeloproliferative disorder","volume":"73","author":"M Handa","year":"1995","journal-title":"Thromb Haemost"},{"issue":"03","key":"ref59","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1055\/s-0038-1636901","article-title":"Toward flow cytometry based platelet function diagnostics","volume":"44","author":"I van Asten","year":"2018","journal-title":"Semin Thromb Hemost"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/978-1-4939-7196-1_28","article-title":"Flow cytometry protocols for assessment of platelet function in whole blood","volume":"1646","author":"L Pasalic","year":"2017","journal-title":"Methods Mol Biol"},{"issue":"29","key":"ref61","doi-asserted-by":"crossref","first-page":"17049","DOI":"10.1016\/S0021-9258(18)71457-9","article-title":"Assembly of the platelet prothrombinase complex is linked to vesiculation of the platelet plasma membrane. Studies in Scott syndrome: an isolated defect in platelet procoagulant activity","volume":"264","author":"P J Sims","year":"1989","journal-title":"J Biol Chem"},{"issue":"10","key":"ref62","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1111\/j.1538-7836.2007.02691.x","article-title":"Coated-platelet levels are influenced by smoking, aspirin, and selective serotonin reuptake inhibitors","volume":"5","author":"C I Prodan","year":"2007","journal-title":"J Thromb Haemost"},{"issue":"10","key":"ref63","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1111\/j.1538-7836.2005.01274.x","article-title":"Coated-platelets: an emerging component of the procoagulant response","volume":"3","author":"G L Dale","year":"2005","journal-title":"J Thromb Haemost"},{"issue":"41","key":"ref64","doi-asserted-by":"crossref","first-page":"29621","DOI":"10.1074\/jbc.M113.474163","article-title":"Procoagulant platelets form an \u03b1-granule protein-covered \u201ccap\u201d on their surface that promotes their attachment to aggregates","volume":"288","author":"A A Abaeva","year":"2013","journal-title":"J Biol Chem"},{"issue":"07","key":"ref65","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1161\/STROKEAHA.115.009068","article-title":"Lower coated-platelet levels are associated with increased mortality after spontaneous intracerebral hemorrhage","volume":"46","author":"C I Prodan","year":"2015","journal-title":"Stroke"},{"issue":"12","key":"ref66","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1182\/blood-2013-04-497123","article-title":"The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects","volume":"123","author":"G Colucci","year":"2014","journal-title":"Blood"},{"issue":"09","key":"ref67","doi-asserted-by":"crossref","first-page":"1972","DOI":"10.1111\/j.1538-7836.2007.02683.x","article-title":"Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization","volume":"5","author":"M B Brooks","year":"2007","journal-title":"J Thromb Haemost"},{"issue":"05","key":"ref68","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1111\/j.1538-7836.2010.03828.x","article-title":"Coated-platelet levels may explain some variability in clinical phenotypes observed with severe hemophilia","volume":"8","author":"K Saxena","year":"2010","journal-title":"J Thromb Haemost"},{"issue":"03","key":"ref69","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1111\/jth.14714","article-title":"Increased platelet procoagulant potential predicts recurrent stroke and TIA after lacunar infarction","volume":"18","author":"A C Kirkpatrick","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"10","key":"ref70","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1111\/j.1538-7836.2010.04002.x","article-title":"Usefulness of a flow cytometric analysis of intraplatelet vasodilator-stimulated phosphoprotein phosphorylation for the detection of patients with genetic defects of the platelet P2Y(12) receptor for ADP","volume":"8","author":"M L Zighetti","year":"2010","journal-title":"J Thromb Haemost"},{"issue":"03","key":"ref71","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1160\/TH07-11-0673","article-title":"P2 receptors, platelet function and pharmacological implications","volume":"99","author":"C Gachet","year":"2008","journal-title":"Thromb Haemost"},{"key":"ref72","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.2741\/1939","article-title":"The role of ADP receptors in platelet function","volume":"11","author":"S Murugappa","year":"2006","journal-title":"Front Biosci"},{"issue":"05","key":"ref73","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1182\/blood.V75.5.1081.1081","article-title":"Released adenosine diphosphate stabilizes thrombin-induced human platelet aggregates","volume":"75","author":"M Cattaneo","year":"1990","journal-title":"Blood"},{"issue":"03","key":"ref74","first-page":"178","article-title":"Inherited platelet disorders","volume":"36","author":"K Sandrock-Lang","year":"2016","journal-title":"Hamostaseologie"},{"key":"ref75","doi-asserted-by":"crossref","first-page":"236","DOI":"10.12688\/f1000research.13283.1","article-title":"The life cycle of platelet granules","volume":"7","author":"A Sharda","year":"2018","journal-title":"F1000 Res"},{"issue":"S 05","key":"ref76","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1365-2516.2010.02314.x","article-title":"Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding","volume":"16","author":"S J Israels","year":"2010","journal-title":"Haemophilia"},{"issue":"04","key":"ref77","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.transci.2018.07.009","article-title":"Laboratory diagnosis of inherited platelet function disorders","volume":"57","author":"M L Rand","year":"2018","journal-title":"Transfus Apheresis Sci"},{"issue":"02","key":"ref78","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/jth.14363","article-title":"Diagnostic challenges of inherited mild bleeding disorders: a bait for poorly explored clinical and basic research","volume":"17","author":"D Mezzano","year":"2019","journal-title":"J Thromb Haemost"},{"issue":"02","key":"ref79","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1055\/s-0029-1220324","article-title":"Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function","volume":"35","author":"M Cattaneo","year":"2009","journal-title":"Semin Thromb Hemost"},{"issue":"03","key":"ref80","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1055\/s-0038-1649853","article-title":"Inherited platelet delta-storage pool disease in dogs causing severe bleeding: an animal model for a specific ADP deficiency","volume":"74","author":"M B Callan","year":"1995","journal-title":"Thromb Haemost"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.talanta.2018.10.003","article-title":"Validation of a LC\/MSMS method for simultaneous quantification of 9 nucleotides in biological matrices","volume":"193","author":"M Cortese","year":"2019","journal-title":"Talanta"},{"issue":"03","key":"ref82","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1309\/AJCP9IPR1TFLUAGM","article-title":"Diagnostic usefulness of a lumi-aggregometer adenosine triphosphate release assay for the assessment of platelet function disorders","volume":"136","author":"M Pai","year":"2011","journal-title":"Am J Clin Pathol"},{"issue":"06","key":"ref83","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1111\/ijlh.12553","article-title":"Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder","volume":"38","author":"M S Badin","year":"2016","journal-title":"Int J Lab Hematol"},{"issue":"06","key":"ref84","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.3324\/haematol.2016.153577","article-title":"Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features","volume":"102","author":"P Saultier","year":"2017","journal-title":"Haematologica"},{"issue":"05","key":"ref85","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26320","article-title":"A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome","volume":"64","author":"O Andres","year":"2017","journal-title":"Pediatr Blood Cancer"},{"issue":"03","key":"ref86","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1055\/s-0035-1564836","article-title":"Usefulness of flow cytometric mepacrine uptake\/release combined with CD63 assay in diagnosis of patients with suspected platelet dense granule disorder","volume":"42","author":"H Cai","year":"2016","journal-title":"Semin Thromb Hemost"},{"issue":"02","key":"ref87","first-page":"220","article-title":"Hermansky-Pudlak syndrome: clinical presentation and confirmation of the value of the mepacrine-based cytofluorimetry test in the diagnosis of delta granule deficiency","volume":"86","author":"A Billio","year":"2001","journal-title":"Haematologica"},{"issue":"02","key":"ref88","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/j.1365-2141.1995.tb03315.x","article-title":"A flow cytometric assay using mepacrine for study of uptake and release of platelet dense granule contents","volume":"89","author":"J E Wall","year":"1995","journal-title":"Br J Haematol"},{"issue":"03","key":"ref89","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1111\/jth.14698","article-title":"Flow cytometric mepacrine fluorescence can be used for the exclusion of platelet dense granule deficiency","volume":"18","author":"I van Asten","year":"2020","journal-title":"J Thromb Haemost"},{"issue":"02","key":"ref90","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1365-2141.1979.tb03753.x","article-title":"Storage pool disease: comparative fluorescence microscopical, cytochemical and biochemical studies on amine-storing organelles of human blood platelets","volume":"43","author":"H P Lorez","year":"1979","journal-title":"Br J Haematol"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.cca.2017.04.001","article-title":"A serum and platelet-rich plasma serotonin assay using liquid chromatography tandem mass spectrometry for monitoring of neuroendocrine tumor patients","volume":"469","author":"C M Korse","year":"2017","journal-title":"Clin Chim Acta"},{"issue":"03","key":"ref92","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1046\/j.0007-1048.2001.03302.x","article-title":"A novel immunocytochemical assay for the detection of serotonin in platelets","volume":"116","author":"E Maurer-Spurej","year":"2002","journal-title":"Br J Haematol"},{"issue":"05","key":"ref93","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/j.1365-2141.2009.07890.x","article-title":"Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays","volume":"147","author":"T Quiroga","year":"2009","journal-title":"Br J Haematol"},{"issue":"05","key":"ref94","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1309\/AJCPYMFXZNSNRZ55","article-title":"Results of an external proficiency testing exercise on platelet dense-granule deficiency testing by whole mount electron microscopy","volume":"131","author":"C PM Hayward","year":"2009","journal-title":"Am J Clin Pathol"},{"issue":"04","key":"ref95","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1111\/ijlh.12801","article-title":"Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: Implications for diagnosing suspected platelet function disorders due to dense granule deficiency","volume":"40","author":"J G Brunet","year":"2018","journal-title":"Int J Lab Hematol"},{"issue":"05","key":"ref96","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1080\/17474086.2017.1315302","article-title":"Super-resolution microscopy in the diagnosis of platelet granule disorders","volume":"10","author":"A E Knight","year":"2017","journal-title":"Expert Rev Hematol"},{"issue":"02","key":"ref97","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/bjh.12662","article-title":"Congenital platelet disorders and understanding of platelet function","volume":"165","author":"A T Nurden","year":"2014","journal-title":"Br J Haematol"},{"issue":"05","key":"ref98","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1055\/s-2004-835674","article-title":"Molecular defects that affect platelet dense granules","volume":"30","author":"M Gunay-Aygun","year":"2004","journal-title":"Semin Thromb Hemost"},{"issue":"01","key":"ref99","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1600-0749.2005.00289.x","article-title":"Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function","volume":"19","author":"M L Wei","year":"2006","journal-title":"Pigment Cell Res"},{"issue":"02","key":"ref100","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/mgme.1999.2927","article-title":"Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome","volume":"68","author":"W Introne","year":"1999","journal-title":"Mol Genet Metab"},{"issue":"01","key":"ref101","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1080\/09537100802406661","article-title":"Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation","volume":"20","author":"J G White","year":"2009","journal-title":"Platelets"},{"issue":"04","key":"ref102","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1111\/jth.13619","article-title":"Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency","volume":"15","author":"G F Mao","year":"2017","journal-title":"J Thromb Haemost"},{"issue":"01","key":"ref103","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1161\/ATVBAHA.112.300603","article-title":"Heterogeneity of platelet functional alterations in patients with filamin A mutations","volume":"33","author":"E Berrou","year":"2013","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"01","key":"ref104","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.blre.2005.12.003","article-title":"The gray platelet syndrome: clinical spectrum of the disease","volume":"21","author":"A T Nurden","year":"2007","journal-title":"Blood Rev"},{"key":"ref105","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13052-014-0077-3","article-title":"Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features","volume":"40","author":"Y Zhou","year":"2014","journal-title":"Ital J Pediatr"},{"issue":"10","key":"ref106","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1111\/jth.12670","article-title":"Multiplexed phosphospecific flow cytometry enables large-scale signaling profiling and drug screening in blood platelets","volume":"12","author":"B EJ Spurgeon","year":"2014","journal-title":"J Thromb Haemost"},{"issue":"07","key":"ref107","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1111\/jth.13729","article-title":"Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders","volume":"15","author":"A Greinacher","year":"2017","journal-title":"J Thromb Haemost"},{"issue":"04","key":"ref108","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1172\/JCI111089","article-title":"Endogenous prostacyclin biosynthesis and platelet function during selective inhibition of thromboxane synthase in man","volume":"72","author":"G A FitzGerald","year":"1983","journal-title":"J Clin Invest"},{"issue":"15","key":"ref109","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1136\/hrt.2008.150631","article-title":"Assessment of aspirin resistance varies on a temporal basis in patients with ischaemic heart disease","volume":"95","author":"A R Muir","year":"2009","journal-title":"Heart"},{"issue":"07","key":"ref110","doi-asserted-by":"crossref","first-page":"630","DOI":"10.5551\/jat.17665","article-title":"Differential impact of inflammation on six laboratory assays measuring residual arachidonic acid-inducible platelet reactivity during dual antiplatelet therapy","volume":"20","author":"T Gremmel","year":"2013","journal-title":"J Atheroscler Thromb"},{"issue":"12","key":"ref111","doi-asserted-by":"crossref","first-page":"4967","DOI":"10.1182\/blood.V87.12.4967.bloodjournal87124967","article-title":"An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect","volume":"87","author":"C P Hayward","year":"1996","journal-title":"Blood"},{"issue":"07","key":"ref112","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1182\/blood-2008-08-175216","article-title":"Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes","volume":"113","author":"M Diamandis","year":"2009","journal-title":"Blood"},{"issue":"02","key":"ref113","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1182\/blood.V98.2.257","article-title":"Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator","volume":"98","author":"W H Kahr","year":"2001","journal-title":"Blood"},{"issue":"05","key":"ref114","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1111\/j.1538-7836.2006.01877.x","article-title":"Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis","volume":"4","author":"M Diamandis","year":"2006","journal-title":"J Thromb Haemost"},{"issue":"07","key":"ref115","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1111\/jth.13681","article-title":"High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders","volume":"15","author":"K Freson","year":"2017","journal-title":"J Thromb Haemost"}],"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1223-3306.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T10:59:48Z","timestamp":1696676388000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1223-3306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,15]]},"references-count":115,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2020,10,22]]},"published-print":{"date-parts":[[2020,11]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1223-3306","relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,15]]}}}