{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:19:06Z","timestamp":1791296346873,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":6797,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1987,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The clinical, pigmentary, and ceroid storage manifestations of the Hermansky\u2010Pudlak syndrome (HPS) triad of albinism, hemorrhagic diathesis, and ceroid storage disease are variable. Therefore, a rapid and accurate method of diagnosing HPS is needed. Platelets of 66 albinos were examined by electron microscopy for the presence or absence of dense bodies. Results show that patients reexamined over a period of 1 year had consistent findings. Those lacking dense bodies (15) when first examined also lacked dense bodies when reexamined a year later, and they had evidence of ceroid storage. Those with dense bodies when first examined (8) also had dense bodies when reexamined, did not have evidence of storage disease, and had types of albinism other than HPS. Of 20 propositi lacking dense bodies, all 32 albino relatives also lacked dense bodies, while 6 albino relatives of 6 propositi with dense bodies also had dense bodies in their platelets. The evidence supports the concept that HPS is a distinct genetic and biochemical disease in which the components of the triad are the result of a single genetic defect, either a point mutation or a small deletion. Comparison of whole mount preparations with thin section preparations of 13 albinos shows that whole mount preparations are an accurate and rapid method for diagnosing HPS. The most consistent diagnostic feature of HPS is lack of platelet dense bodies.<\/jats:p>","DOI":"10.1002\/ajh.2830260403","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T10:59:12Z","timestamp":1172055552000},"page":"305-311","source":"Crossref","is-referenced-by-count":154,"title":["Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky\u2010Pudlak syndrome"],"prefix":"10.1002","volume":"26","author":[{"given":"Carl J.","family":"Witkop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcy","family":"Krumwiede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heddie","family":"Sedano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James G.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"301","volume-title":"The Metabolic Basis of Inherited Disease","author":"Witkop CJ","year":"1983"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0738-081X(85)90097-5"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816818309007832"},{"key":"e_1_2_1_5_2","first-page":"408","article-title":"Albinismus, haemorrhagische Diathese und anomale Pigmentzellen im Knockenmark","volume":"59","author":"Verloop MCV","year":"1964","journal-title":"Med Klin"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.69.12.904"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(82)90701-2"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(79)91111-2"},{"key":"e_1_2_1_9_2","first-page":"219","article-title":"Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome","volume":"45","author":"Davies BH","year":"1976","journal-title":"Quart J Med"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-92-1-20"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.143.4.809"},{"key":"e_1_2_1_12_2","first-page":"319","article-title":"Studies of platelets in a variant of the Hermansky\u2010Pudlak syndrome","volume":"63","author":"White JG","year":"1971","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(87)90446-3"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(85)80230-6"},{"key":"e_1_2_1_15_2","first-page":"513","article-title":"The influence of aspirin and indomethacin on the platelet contractile wave","volume":"82","author":"Gerrard JM","year":"1976","journal-title":"Am J Pathol"},{"key":"e_1_2_1_16_2","first-page":"189","article-title":"The influence of prostaglandin endoperoxides on platelet ultrastructure","volume":"80","author":"Gerrard JM","year":"1975","journal-title":"Am J Pathol"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12546765"},{"key":"e_1_2_1_18_2","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 serotonin storage particles","volume":"33","author":"White JG","year":"1969","journal-title":"Blood"},{"key":"e_1_2_1_19_2","first-page":"200","article-title":"Mepacrine, a tool for investigating the 5\u2010hydroxytryptamine organelles of blood platelets by fluorescence microscopy","volume":"89","author":"Lorez HP","year":"1977","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1979.tb03753.x"},{"key":"e_1_2_1_21_2","first-page":"79","article-title":"Dolichols, lysosomal membrane turnover and relationships to the accumulation of ceroid and lipofuscin in inherited diseases, Alzheimer's disease and aging. 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