{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:04:39Z","timestamp":1791813879919,"version":"4.3.4"},"reference-count":111,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T00:00:00Z","timestamp":1596499200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Platelet dense-granules are small organelles specific to the platelet lineage that contain small molecules (calcium, adenyl nucleotides, serotonin) and are essential for the activation of blood platelets prior to their aggregation in the event of a vascular injury. Delta-storage pool diseases (\u03b4-SPDs) are platelet pathologies leading to hemorrhagic syndromes of variable severity and related to a qualitative (content) or quantitative (numerical) deficiency in dense-granules. These pathologies appear in a syndromic or non-syndromic form. The syndromic forms (Chediak\u2013Higashi disease, Hermansky\u2013Pudlak syndromes), whose causative genes are known, associate immune deficiencies and\/or oculocutaneous albinism with a platelet function disorder (PFD). The non-syndromic forms correspond to an isolated PFD, but the genes responsible for the pathology are not yet known. The diagnosis of these pathologies is complex and poorly standardized. It is based on orientation tests performed by light transmission aggregometry or flow cytometry, which are supplemented by complementary tests based on the quantification of platelet dense-granules by electron microscopy using the whole platelet mount technique and the direct determination of granule contents (ADP\/ATP and serotonin). The objective of this review is to present the state of our knowledge concerning platelet dense-granules and the tools available for the diagnosis of different forms of \u03b4-SPD.<\/jats:p>","DOI":"10.3390\/jcm9082508","type":"journal-article","created":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T10:45:17Z","timestamp":1596537917000},"page":"2508","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":79,"title":["Platelet \u03b4-Storage Pool Disease: An Update"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9058-7295","authenticated-orcid":false,"given":"Arnaud","family":"Dupuis","sequence":"first","affiliation":[{"name":"INSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Universit\u00e9 de Strasbourg, F-67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Claude","family":"Bordet","sequence":"additional","affiliation":[{"name":"Laboratoire D\u2019h\u00e9matologie, Hospices Civils de Lyon, 59 Bd Pinel, CEDEX, 69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Eckly","sequence":"additional","affiliation":[{"name":"INSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Universit\u00e9 de Strasbourg, F-67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1303-4210","authenticated-orcid":false,"given":"Christian","family":"Gachet","sequence":"additional","affiliation":[{"name":"INSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Universit\u00e9 de Strasbourg, F-67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1152\/physrev.00016.2011","article-title":"New fundamentals in hemostasis","volume":"93","author":"Versteeg","year":"2013","journal-title":"Physiol. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.12688\/f1000research.13283.1","article-title":"The life cycle of platelet granules","volume":"7","author":"Sharda","year":"2018","journal-title":"F1000Res"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1146\/annurev.pharmtox.46.120604.141207","article-title":"Regulation of platelet functions by P2 receptors","volume":"46","author":"Gachet","year":"2006","journal-title":"Annu. Rev. Pharmacol. Toxicol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/bjh.12064","article-title":"Molecular determinants of platelet delta storage pool deficiencies: An update","volume":"160","author":"Darnige","year":"2013","journal-title":"Br. J. Haematol."},{"key":"ref_5","unstructured":"Michelson, A.D. (2013). Platelet Secretion\u2014Chapter 18. Platelets, Academic Press. [3rd ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"28393","DOI":"10.1074\/jbc.M402513200","article-title":"Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3\/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)","volume":"279","author":"Starcevic","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/15507","article-title":"The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency","volume":"23","author":"Huang","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"19550","DOI":"10.1074\/jbc.M112.351908","article-title":"BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles","volume":"287","author":"Bultema","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1016\/j.cub.2012.09.020","article-title":"BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32\/38 guanine nucleotide exchange factor","volume":"22","author":"Gerondopoulos","year":"2012","journal-title":"Curr. Biol. CB"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"3394","DOI":"10.1182\/blood-2011-09-336933","article-title":"Transporters in human platelets: Physiologic function and impact for pharmacotherapy","volume":"119","author":"Jedlitschky","year":"2012","journal-title":"Blood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1182\/blood-2012-04-420745","article-title":"Mechanism of platelet dense granule biogenesis: Study of cargo transport and function of Rab32 and Rab38 in a model system","volume":"120","author":"Ambrosio","year":"2012","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1083\/jcb.200311064","article-title":"Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane proteins","volume":"164","author":"Peden","year":"2004","journal-title":"J. Cell Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4027","DOI":"10.1091\/mbc.e06-05-0379","article-title":"BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes","volume":"17","author":"Tenza","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1172\/JCI33374","article-title":"Interactions between integrin alphaIIbbeta3 and the serotonin transporter regulate serotonin transport and platelet aggregation in mice and humans","volume":"118","author":"Carneiro","year":"2008","journal-title":"J. Clin. Investig."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1182\/blood-2015-02-631044","article-title":"Impaired platelet activation and cAMP homeostasis in MRP4-deficient mice","volume":"126","author":"Decouture","year":"2015","journal-title":"Blood"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1182\/blood.V39.2.197.197","article-title":"Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia\u2014\u201cStorage pool disease\u201d","volume":"39","author":"Holmsen","year":"1972","journal-title":"Blood"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0076-6879(89)69060-X","article-title":"Measurement of secretion of adenine nucleotides","volume":"169","author":"Holmsen","year":"1989","journal-title":"Methods Enzym."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s12185-012-1054-5","article-title":"Polyphosphate: A link between platelets, coagulation and inflammation","volume":"95","author":"Morrissey","year":"2012","journal-title":"Int. J. Hematol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1182\/blood-2008-03-145755","article-title":"Polyphosphate enhances fibrin clot structure","volume":"112","author":"Smith","year":"2008","journal-title":"Blood"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1074\/jbc.M114.602615","article-title":"Syntaxin 8 regulates platelet dense granule secretion, aggregation, and thrombus stability","volume":"290","author":"Golebiewska","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/j.1365-2141.2006.06343.x","article-title":"A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO","volume":"135","author":"Chalmers","year":"2006","journal-title":"Br. J. Haematol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/382262a0","article-title":"Identification of the homologous beige and Chediak-Higashi syndrome genes","volume":"382","author":"Barbosa","year":"1996","journal-title":"Nature"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/tra.12244","article-title":"LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function","volume":"16","author":"Sepulveda","year":"2015","journal-title":"Traffic"},{"key":"ref_24","first-page":"1","article-title":"Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome","volume":"7","author":"Jin","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"29376","DOI":"10.1074\/jbc.M301294200","article-title":"BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4","volume":"278","author":"Martina","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/hmg\/8.2.323","article-title":"The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness","volume":"8","author":"Feng","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1111\/j.1600-0854.2004.0171.x","article-title":"Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6","volume":"5","year":"2004","journal-title":"Traffic"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/ng1229","article-title":"Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)","volume":"35","author":"Li","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1086\/499338","article-title":"A germline mutation in BLOC1S3\/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)","volume":"78","author":"Morgan","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J.C., Plaisant, C., and Diallo, M. (2020). BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet. Med. Off. J. Am. Coll. Med. Genet., 1\u201310.","DOI":"10.1038\/s41436-020-0867-5"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/j.ajhg.2011.05.009","article-title":"A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9","volume":"88","author":"Cullinane","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1182\/blood-2015-09-671636","article-title":"Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome","volume":"127","author":"Ammann","year":"2016","journal-title":"Blood"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"103583","DOI":"10.1016\/j.ejmg.2018.11.017","article-title":"Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder","volume":"62","author":"Mohammed","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky-Pudlak syndrome: Mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/0002-9343(78)90858-6","article-title":"A syndrome associating partial albinism and immunodeficiency","volume":"65","author":"Griscelli","year":"1978","journal-title":"Am. J. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ymgme.2008.02.009","article-title":"A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome","volume":"94","author":"Westbroek","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/09537100600800172","article-title":"Alpha-delta platelet storage pool deficiency in three generations","volume":"18","author":"White","year":"2007","journal-title":"Platelets"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ymgme.2016.12.006","article-title":"Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B","volume":"120","author":"Ferreira","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.2353\/ajpath.2010.090425","article-title":"Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: Evidence from patients with delta-storage pool deficiencies","volume":"176","author":"Jedlitschky","year":"2010","journal-title":"Am. J. Pathol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1160\/TH14-11-0999","article-title":"A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders","volume":"114","author":"Mumford","year":"2015","journal-title":"Thromb. Haemost."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"357","DOI":"10.3324\/haematol.10816","article-title":"High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls","volume":"92","author":"Quiroga","year":"2007","journal-title":"Haematologica"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1055\/s-0029-1220785","article-title":"The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays","volume":"35","author":"Mezzano","year":"2009","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_43","first-page":"243","article-title":"D\u00e9ficit en granules denses plaquettaires: Une cause sous-estim\u00e9e de saignements inexpliqu\u00e9s","volume":"23","author":"Fiore","year":"2017","journal-title":"H\u00e9matologie"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.1111\/jth.12650","article-title":"Diagnosis of suspected inherited platelet function disorders: Results of a worldwide survey","volume":"12","author":"Gresele","year":"2014","journal-title":"J. Thromb. Haemost."},{"key":"ref_45","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":"Kerenyi","year":"1999","journal-title":"Thromb. Res."},{"key":"ref_46","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":"Hechler","year":"2019","journal-title":"Res. Pract. Thromb. Haemost."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1182\/blood.V70.3.620.620","article-title":"Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients","volume":"70","author":"Nieuwenhuis","year":"1987","journal-title":"Blood"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1182\/blood.V52.2.332.332","article-title":"Hereditary abnormality of platelet aggregation attributable to nucleotide storage pool deficiency","volume":"52","author":"Ingerman","year":"1978","journal-title":"Blood"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1183","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","volume":"11","author":"Cattaneo","year":"2013","journal-title":"J. Thromb. Haemost."},{"key":"ref_50","first-page":"H1276","article-title":"Epinephrine potentiates human platelet activation but is not an aggregating agent","volume":"255","author":"Lanza","year":"1988","journal-title":"Am. J. Physiol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1055\/s-0038-1649230","article-title":"Properties of washed human platelets","volume":"37","author":"Mustard","year":"1977","journal-title":"Thromb. Haemost."},{"key":"ref_52","first-page":"13","article-title":"Preparation of washed platelet suspensions from human and rodent blood","volume":"272","author":"Cazenave","year":"2004","journal-title":"Methods Mol. Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1182\/blood.V28.6.901.901","article-title":"The ultrastructure of negatively stained platelets. Some physiologic implications","volume":"28","author":"Bull","year":"1966","journal-title":"Blood"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1182\/blood.V33.4.598.598","article-title":"The dense bodies of human platelets: Inherent electron opacity of the serotonin storage particles","volume":"33","author":"White","year":"1969","journal-title":"Blood"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1083\/jcb.60.3.775","article-title":"Calcium-containing platelet granules","volume":"60","author":"Martin","year":"1974","journal-title":"J. Cell Biol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1242\/jcs.15.3.679","article-title":"The localization of calcium and phosphorus in human platelets","volume":"15","author":"Skaer","year":"1974","journal-title":"J. Cell Sci."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1476-5381.1958.tb00191.x","article-title":"The relationship between 5-hydroxytryptamine and adenosine triphosphate in blood platelets","volume":"13","author":"Born","year":"1958","journal-title":"Br. J. Pharmacol. Chemother."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1042\/bj1920099","article-title":"Secretion, subcellular localization and metabolic status of inorganic pyrophosphate in human platelets. A major constituent of the amine-storing granules","volume":"192","author":"Fukami","year":"1980","journal-title":"Biochem. J."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"44250","DOI":"10.1074\/jbc.M406261200","article-title":"Human platelet dense granules contain polyphosphate and are similar to acidocalcisomes of bacteria and unicellular eukaryotes","volume":"279","author":"Ruiz","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"3976","DOI":"10.1021\/bm501046t","article-title":"Size-controlled synthesis of granular polyphosphate nanoparticles at physiologic salt concentrations for blood clotting","volume":"15","author":"Donovan","year":"2014","journal-title":"Biomacromolecules"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1128\/jb.177.3.491-496.1995","article-title":"Inorganic polyphosphate: Toward making a forgotten polymer unforgettable","volume":"177","author":"Kornberg","year":"1995","journal-title":"J. Bacteriol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"76","DOI":"10.3389\/fmed.2019.00076","article-title":"Polyphosphate as a Target for Interference With Inflammation and Thrombosis","volume":"6","author":"Mailer","year":"2019","journal-title":"Front. Med. (Lausanne)"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/rth2.12162","article-title":"Polyphosphate in thrombosis, hemostasis, and inflammation","volume":"3","author":"Baker","year":"2019","journal-title":"Res. Pract. Thromb. Haemost."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1182\/blood-2016-08-734988","article-title":"Polyphosphate nanoparticles on the platelet surface trigger contact system activation","volume":"129","author":"Verhoef","year":"2017","journal-title":"Blood"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1080\/09537100802132671","article-title":"Electron opaque structures in human platelets: Which are or are not dense bodies?","volume":"19","author":"White","year":"2008","journal-title":"Platelets"},{"key":"ref_66","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":"Brunet","year":"2018","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1080\/09537104.2018.1476682","article-title":"Diagnostic laboratory standardization and validation of platelet transmission electron microscopy","volume":"29","author":"Chen","year":"2018","journal-title":"Platelets"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1365-2141.1993.tb08284.x","article-title":"Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency","volume":"83","author":"Weiss","year":"1993","journal-title":"Br. J. Haematol."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Gunning, W.T., Raghavan, M., Calomeni, E.P., Turner, J.N., Roysam, B., Roysam, S., Smith, M.R., Kouides, P.A., and Lachant, N.A. (2020). A Morphometric Analysis of Platelet Dense Granules of Patients with Unexplained Bleeding: A New Entity of Delta-Microgranular Storage Pool Deficiency. J. Clin. Med., 9.","DOI":"10.3390\/jcm9061734"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ymgme.2014.12.307","article-title":"York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1","volume":"114","author":"Markello","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1179\/his.2000.23.3.237","article-title":"A brief review of transmission electron microscopy and applications in pathology","volume":"23","author":"Gunning","year":"2000","journal-title":"J. Histotechnol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"498","DOI":"10.2350\/15-11-1733-OA.1","article-title":"Reference Range of Platelet Delta Granules in the Pediatric Age Group: An Ultrastructural Study of Platelet Whole Mount Preparations from Healthy Volunteers","volume":"19","author":"Sorokin","year":"2016","journal-title":"Pediatr. Dev. Pathol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"14266","DOI":"10.1073\/pnas.1518628112","article-title":"Electron cryotomography reveals ultrastructure alterations in platelets from patients with ovarian cancer","volume":"112","author":"Wang","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2538","DOI":"10.1182\/blood-2016-03-705681","article-title":"Respective contributions of single and compound granule fusion to secretion by activated platelets","volume":"128","author":"Eckly","year":"2016","journal-title":"Blood"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/rth2.12260","article-title":"3D ultrastructural analysis of alpha-granule, dense granule, mitochondria, and canalicular system arrangement in resting human platelets","volume":"4","author":"Pokrovskaya","year":"2020","journal-title":"Res. Pract. Thromb. Haemost."},{"key":"ref_76","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":"Saultier","year":"2017","journal-title":"Haematologica"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Asher, L., and Hata, J. (2020). Platelet Electron Microscopy: Utilizing LEAN Methodology to Optimize Laboratory Workflow. Pediatr. Dev. Pathol.","DOI":"10.1177\/1093526620915361"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1182\/blood-2016-11-749366","article-title":"Platelet CD34 expression and alpha\/delta-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders","volume":"129","author":"Marneth","year":"2017","journal-title":"Blood"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.3324\/haematol.2016.152421","article-title":"Decreased numbers of dense granules in fetal and neonatal platelets","volume":"102","author":"Urban","year":"2017","journal-title":"Haematologica"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e27505","DOI":"10.1002\/pbc.27505","article-title":"Weak correlation of bleeding scores to platelet electron microscopy: A retrospective chart review of pediatric patients with delta-storage pool disorder","volume":"66","author":"Nessle","year":"2019","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_81","first-page":"253","article-title":"Human platelet serotonin content: Methodological aspects and physiological variations","volume":"10","author":"Guicheney","year":"1988","journal-title":"Methods Find. Exp. Clin. Pharmacol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1093\/clinchem\/36.12.2117","article-title":"Determination of reference values for serotonin concentration in platelets of healthy newborns, children, adults, and elderly subjects by HPLC with electrochemical detection","volume":"36","author":"Flachaire","year":"1990","journal-title":"Clin. Chem."},{"key":"ref_83","first-page":"633","article-title":"The influence of reserpine and ethylenediaminetetraacetic acid (EDTA) on serotonin storage organelles of blood platelets","volume":"87","author":"Gerrard","year":"1977","journal-title":"Am. J. Pathol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1160\/TH03-05-0330","article-title":"The influence of selective serotonin reuptake inhibitors on human platelet serotonin","volume":"91","author":"Pittendreigh","year":"2004","journal-title":"Thromb. Haemost."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1365-2141.1981.tb07246.x","article-title":"Mepacrine stains the dense bodies of human platelets and not platelet lysosomes","volume":"49","author":"Skaer","year":"1981","journal-title":"Br. J. Haematol."},{"key":"ref_86","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":"Greinacher","year":"2017","journal-title":"J. Thromb. Haemost."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Zaninetti, C., and Greinacher, A. (2020). Diagnosis of Inherited Platelet Disorders on a Blood Smear. J. Clin. Med., 9.","DOI":"10.3390\/jcm9020539"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/jth.13269","article-title":"Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders","volume":"14","author":"Westmoreland","year":"2016","journal-title":"J. Thromb. Haemost."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1016\/0006-2952(73)90068-3","article-title":"Behaviour of endogenous and newly absorbed serotonin in the platelet release reaction","volume":"22","author":"Holmsen","year":"1973","journal-title":"Biochem. Pharmacol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S0003-2697(05)80011-9","article-title":"Platelet dense granule release reaction monitored by high-performance liquid chromatography-fluorometric determination of endogenous serotonin","volume":"206","author":"Anderson","year":"1992","journal-title":"Anal. Biochem."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/0003-2697(89)90617-9","article-title":"Quantitation of paf-acether by release of endogenous platelet serotonin assessed by liquid chromatography with electrochemical detection","volume":"182","author":"Bossant","year":"1989","journal-title":"Anal. Biochem."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"7020","DOI":"10.1021\/bi800792m","article-title":"Quantitative and real-time detection of secretion of chemical messengers from individual platelets","volume":"47","author":"Ge","year":"2008","journal-title":"Biochemistry"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1021\/ac102929y","article-title":"Electrochemical measurement of endogenous serotonin release from human blood platelets","volume":"83","author":"Ge","year":"2011","journal-title":"Anal. Chem."},{"key":"ref_94","first-page":"284","article-title":"Flow-cytometric analysis of mepacrine-labelled platelets in patients with end-stage renal failure","volume":"23","author":"Gawaz","year":"1993","journal-title":"Haemostasis"},{"key":"ref_95","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":"Blaauwgeers","year":"2020","journal-title":"J. Thromb. Haemost."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1007\/s10895-008-0315-4","article-title":"High sensitivity, quantitative measurements of polyphosphate using a new DAPI-based approach","volume":"18","author":"Abramov","year":"2008","journal-title":"J. Fluoresc."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jpba.2016.08.005","article-title":"Non-enzymatic quantification of polyphosphate levels in platelet lysates and releasates","volume":"131","author":"Schlagenhauf","year":"2016","journal-title":"J. Pharm. Biomed. Anal."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"3461","DOI":"10.1002\/elps.200700041","article-title":"Sensitive fluorescence detection of polyphosphate in polyacrylamide gels using 4\u2032, 6-diamidino-2-phenylindol","volume":"28","author":"Smith","year":"2007","journal-title":"Electrophoresis"},{"key":"ref_99","first-page":"125","article-title":"The lumi-aggregometer: A new instrument for simultaneous measurement of secretion and aggregation by platelets","volume":"90","author":"Feinman","year":"1977","journal-title":"J. Lab. Clin. Med."},{"key":"ref_100","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":"Cattaneo","year":"2009","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_101","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":"Badin","year":"2016","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1182\/blood-2013-06-506873","article-title":"Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects","volume":"122","author":"Stockley","year":"2013","journal-title":"Blood"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s13023-016-0432-0","article-title":"Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders","volume":"11","author":"Philippe","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.jaapos.2013.02.002","article-title":"Hermansky-Pudlak syndrome (HPS5) in a nonagenarian","volume":"17","author":"Ringeisen","year":"2013","journal-title":"J. AAPOS"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1182\/blood.V63.3.536.536","article-title":"Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci","volume":"63","author":"Novak","year":"1984","journal-title":"Blood"},{"key":"ref_106","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":"Cai","year":"2016","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1111\/j.1538-7836.2010.03975.x","article-title":"ISTH\/SSC bleeding assessment tool: A standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders","volume":"8","author":"Rodeghiero","year":"2010","journal-title":"J. Thromb. Haemost."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1055\/s-0036-1584568","article-title":"Clinical and Laboratory Findings in Patients with delta-Storage Pool Disease: A Case Series","volume":"43","author":"Selle","year":"2017","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.3324\/haematol.2016.160754","article-title":"Bleeding risk of surgery and its prevention in patients with inherited platelet disorders","volume":"102","author":"Orsini","year":"2017","journal-title":"Haematologica"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/bjh.13458","article-title":"Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders","volume":"170","author":"Civaschi","year":"2015","journal-title":"Br. J. Haematol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.tracli.2018.07.003","article-title":"Inherited platelet disorders: Management of the bleeding risk","volume":"25","author":"Dupuis","year":"2018","journal-title":"Transfus. Clin. Biol. J. Soc. Fr. Transfus. Sang."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/8\/2508\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:54:12Z","timestamp":1760176452000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/8\/2508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,4]]},"references-count":111,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2020,8]]}},"alternative-id":["jcm9082508"],"URL":"https:\/\/doi.org\/10.3390\/jcm9082508","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,4]]}}}